{"id":70615,"date":"2024-01-10T16:48:59","date_gmt":"2024-01-10T07:48:59","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=70615"},"modified":"2026-09-08T18:10:19","modified_gmt":"2026-09-08T09:10:19","slug":"autosomal-recessive-inheritance","status":"publish","type":"page","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/nipt\/autosomal-recessive-inheritance\/","title":{"rendered":"228 recessive genetic disorders identified by  Hiro Clinic"},"content":{"rendered":"\n<div class=\"wakaru-box\" style=\"border:2px solid #e54c84;border-radius:8px;padding:20px 24px;margin:8px auto 24px;background:#fff9fb;max-width:820px;\">\n<p style=\"font-weight:700;font-size:1.15rem;color:#e54c84;margin:0 0 10px;\">What You Will Learn on This Page<\/p>\n<ul style=\"margin:0;padding-left:1.2em;line-height:1.9;\">\n<li>What a &#8220;carrier&#8221; is and why approximately 70% of people fall into this category<\/li>\n<li>Why &#8220;couple testing,&#8221; where both partners are tested together, is important<\/li>\n<li>Up to 228 recessive genetic disorders identified by Carrier Screening Test 228<\/li>\n<li>Testing process, optional fees, and turnaround time for results<\/li>\n<li>Steps you can take if risks are detected (such as amniocentesis support)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<style>\n.caution{\n  position:relative;\n  aspect-ratio:2 \/ 1;\n  width:100%;\n  height:100%;\n  text-align:center;\n  color:#fe0000;\n}\n.caution p{\n  position:absolute;\n  top:50%;\n  left:50%;\n  transform:translate(-50%,-50%);\n  font-size:clamp(14px,3vw,36px);\n  width:100%;\n}\n.caution p span{\n  font-size:clamp(16px,5vw,56px);\n  font-weight:bold;\n}\n<\/style>\n\n\n\n<section class=\"sec1\">\n<h2>70% of Parents Are Carriers? The Utility of Recessive Gene Testing<\/h2>\n<div class=\"pink-pointbox\">\n\n<div class=\"flex\">\n<div class=\"flex-item\">\n<p class=\"ex\"><span class=\"pink-pointmoji\">70%<\/span> of people carry some form of genetic anomaly (mutation).<br>\nIndividuals with such genetic mutations are called &#8220;carriers.&#8221;<br>\nEven if there are no visible or physical abnormalities, that gene can potentially affect their children.<br>\nWhen both parents carry a mutation in the same gene, the probability of their child developing the disease is <span class=\"pink-pointmoji\">25%<\/span>, the probability of becoming a carrier is <span class=\"pink-pointmoji\">50%<\/span>, and the probability of inheriting normal genes is <span class=\"pink-pointmoji\">25%<\/span>.<br>\n<\/p>\n<\/div>\n\n<div class=\"flex-item\">\n<img class=\"d-pc\" decoding=\"sync\" fetchpriority=\"high\" loading=\"eager\" src=\"\/nipt\/wp-content\/uploads\/2026\/07\/img-228-test-en.webp\" alt=\"Testing Recommended Worldwide\">\n<img class=\"d-sp\" decoding=\"sync\" fetchpriority=\"high\" loading=\"eager\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/img-228-test-e1752021528760.webp\" alt=\"Testing Recommended Worldwide\">\n<\/div>\n\n\n<\/div>\n\n<\/div>\n<p>So, what kind of testing is performed for these individuals? Also, what types of diseases can be identified?<\/p>\n<\/section>\n\n<style>\n.d-pc { display: block; }\n.d-sp { display: none; }\n\n.pink-pointbox {\n background-color: #fff9fb;\n border-radius: 6px;\n border: 3px dashed #fdb0bc;\n padding: 20px;\n margin-bottom: 1rem;\n}\n.pink-pointbox .flex {\n flex-direction: column;\n align-items: center;\n gap: 20px;\n}\n.pink-pointbox .flex .flex-item {\n text-align: center;\n}\n.pink-pointbox .ex {\n margin-bottom: 0!important;\n font-size: 1.125rem;\n}\n.pink-pointmoji {\n color: red;\n}\n.flex-item {\n flex: 1 auto;\n}\n@media screen and (max-width: 700px) {\n .d-pc { display: none; }\n .d-sp { display: block; }\n\n .sec1 p {\n  margin: 0.5rem;\n }\n .flex {\n  flex-direction: column;\n }\n .flex-item {\n  flex: 1;\n }\n .flex-item:last-child {\n  width: 100%;\n }\n}\n@media screen and (min-width: 701px) {\n .sp-only {\n  display: none;\n }\n}\n<\/style>\n\n\n\n<figure class=\"svg-fig\" style=\"max-width:820px;margin:8px auto 28px;\">\n<svg xmlns=\"http:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 760 250\" role=\"img\" aria-label=\"A carrier is a person who has a mutation in only one gene of a pair and shows no symptoms. In Japan, approximately 70% of people are said to be carriers of some kind.\" style=\"width:100%;height:auto;border:1px solid #f2c4d2;border-radius:8px;\">\n<rect width=\"760\" height=\"250\" fill=\"#fff9fb\"\/>\n<text x=\"380\" y=\"38\" text-anchor=\"middle\" font-size=\"21\" font-weight=\"bold\" fill=\"#e54c84\" font-family=\"sans-serif\">What is a &#8220;Carrier&#8221;?<\/text>\n<rect x=\"238\" y=\"74\" width=\"130\" height=\"40\" rx=\"6\" fill=\"#bcc4cc\"\/>\n<text x=\"303\" y=\"100\" text-anchor=\"middle\" font-size=\"15\" fill=\"#333\" font-family=\"sans-serif\">Normal Gene<\/text>\n<rect x=\"392\" y=\"74\" width=\"130\" height=\"40\" rx=\"6\" fill=\"#f28fb0\"\/>\n<text x=\"457\" y=\"100\" text-anchor=\"middle\" font-size=\"15\" fill=\"#333\" font-family=\"sans-serif\">Mutated Gene<\/text>\n<text x=\"380\" y=\"158\" text-anchor=\"middle\" font-size=\"17\" fill=\"#333\" font-family=\"sans-serif\">If one gene is normal, symptoms will not develop<\/text>\n<text x=\"380\" y=\"190\" text-anchor=\"middle\" font-size=\"18\" font-weight=\"bold\" fill=\"#e54c84\" font-family=\"sans-serif\">\uff1d An asymptomatic &#8220;Carrier&#8221; state<\/text>\n<text x=\"380\" y=\"226\" text-anchor=\"middle\" font-size=\"14\" fill=\"#666\" font-family=\"sans-serif\">In Japan, approximately 70% of people are said to be carriers of some kind<\/text>\n<\/svg>\n<svg xmlns=\"http:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 760 330\" role=\"img\" aria-label=\"When both partners are carriers of the same gene mutation, their children have a 25% chance of developing the condition, a 50% chance of being a carrier, and a 25% chance of being unaffected. That is why couple testing, taken together by both partners, is essential.\" style=\"width:100%;height:auto;border:1px solid #f2c4d2;border-radius:8px;margin-top:16px;\">\n<rect width=\"760\" height=\"330\" fill=\"#fff9fb\"\/>\n<text x=\"380\" y=\"36\" text-anchor=\"middle\" font-size=\"20\" font-weight=\"bold\" fill=\"#e54c84\" font-family=\"sans-serif\">When both partners carry the same mutation, their child will be&#8230;<\/text>\n<g font-family=\"sans-serif\">\n<rect x=\"60\" y=\"70\" width=\"150\" height=\"96\" rx=\"8\" fill=\"#e05a7a\"\/>\n<text x=\"135\" y=\"112\" text-anchor=\"middle\" font-size=\"16\" fill=\"#fff\">Affected<\/text>\n<text x=\"135\" y=\"138\" text-anchor=\"middle\" font-size=\"24\" font-weight=\"bold\" fill=\"#fff\">25%<\/text>\n<rect x=\"230\" y=\"70\" width=\"150\" height=\"96\" rx=\"8\" fill=\"#f7b8ca\"\/>\n<text x=\"305\" y=\"112\" text-anchor=\"middle\" font-size=\"16\" fill=\"#333\">Carrier<\/text>\n<text x=\"305\" y=\"138\" text-anchor=\"middle\" font-size=\"24\" font-weight=\"bold\" fill=\"#333\">25%<\/text>\n<rect x=\"400\" y=\"70\" width=\"150\" height=\"96\" rx=\"8\" fill=\"#f7b8ca\"\/>\n<text x=\"475\" y=\"112\" text-anchor=\"middle\" font-size=\"16\" fill=\"#333\">Carrier<\/text>\n<text x=\"475\" y=\"138\" text-anchor=\"middle\" font-size=\"24\" font-weight=\"bold\" fill=\"#333\">25%<\/text>\n<rect x=\"570\" y=\"70\" width=\"150\" height=\"96\" rx=\"8\" fill=\"#8fc9a0\"\/>\n<text x=\"645\" y=\"112\" text-anchor=\"middle\" font-size=\"16\" fill=\"#fff\">Unaffected<\/text>\n<text x=\"645\" y=\"138\" text-anchor=\"middle\" font-size=\"24\" font-weight=\"bold\" fill=\"#fff\">25%<\/text>\n<\/g>\n<text x=\"380\" y=\"210\" text-anchor=\"middle\" font-size=\"16\" fill=\"#333\" font-family=\"sans-serif\">Ratio: 25% Affected \/ 50% Carrier \/ 25% Unaffected<\/text>\n<rect x=\"90\" y=\"238\" width=\"580\" height=\"62\" rx=\"8\" fill=\"#fff\" stroke=\"#e54c84\" stroke-width=\"2\"\/>\n<text x=\"380\" y=\"266\" text-anchor=\"middle\" font-size=\"17\" font-weight=\"bold\" fill=\"#e54c84\" font-family=\"sans-serif\">That is why taking &#8220;Couple Testing&#8221;<\/text>\n<text x=\"380\" y=\"290\" text-anchor=\"middle\" font-size=\"17\" font-weight=\"bold\" fill=\"#e54c84\" font-family=\"sans-serif\">together as a couple is essential<\/text>\n<\/svg>\n<figcaption style=\"text-align:center;font-size:0.85rem;color:#666;margin-top:8px;\">How Being a Carrier Works and the Importance of Couple Testing<\/figcaption>\n<\/figure>\n\n\n\n<div class=\"newcta\">\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\n  <p class=\"jisseki mincho\">Our <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Track Record <span class=\"big\">Over 75,000<span> cases<\/span><\/span><\/p>\n  <p class=\"res-btn\">Check Availability &#038; Book Now<\/p>\n <\/a>\n<\/div>\n<style>\n.newcta{\n  margin:1rem auto 2rem;\n}\n.newcta a{\n  width:100%;\n  max-width:500px;\n  margin:0 auto;\n  display:block;\n  text-decoration:none;\n  text-align:center;\n}\n.newcta p{\n  margin:0 auto;\n}\n.newcta .jisseki{\n  margin:0 auto;\n  position:relative;\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\n  -webkit-background-clip: text;\n  color: rgba(0,0,0,0);\n  font-weight:bold;\n  display:inline-flex;\n  flex-wrap:wrap;\n  align-items:center;\n  justify-content:center;\n  gap:.5rem;\n  padding-bottom:1rem;\n}\n.newcta .jisseki span{\n  font-size:2rem;\n}\n.newcta .jisseki span span{\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n}\n.newcta .res-btn{\n  display:inline-block;\n  background:#f0a3b8;\n  padding:1.5rem 2rem;\n  text-align:center;\n  border-radius:1rem;\n  box-shadow:0 .5rem .5rem #f0a3b866;\n  color:#fff;\n  font-size:1.2rem;\n  font-weight:bold;\n  letter-spacing:.2rem;\n  min-width:320px;\n}\n@media screen and (max-width:500px){\n  .newcta .jisseki .big{\n    width:100%;\n  }\n  .newcta .res-btn{\n    padding:1.5rem 0;\n  }\n}\n<\/style>\n<div class=\"old-cta\">\n<div class=\"container\" style=\"padding:10px\">\n<div class=\"nipt-bnr mincho\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\n<p class=\"jisseki font-s gothic\">Our <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Track Record<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span> cases<\/p>\n<p class=\"res font-s gothic\">Book an Appointment \u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\n<\/a>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\n <div class=\"image-text-block\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/20th-anniversary\/\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-en-1.webp\" style=\"width:100%\"><\/a>\n <\/div>\n<\/div>\n<style>\n.old-cta{\n  display:none;\n}\n.nipt-bnr{\n  display:flex;\n  justify-content:center;\n  align-items:center;\n  width:calc(100% - 3rem);\n  min-width:350px;\n  max-width:480px;\n  aspect-ratio:11 \/ 5;\n  position:relative;\n  margin:1rem auto;\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\n  border-radius:8px;\n  box-shadow:6px 6px 6px #999;\n}\n.nipt-bnr .gold{\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\n  -webkit-background-clip: text;\n  -webkit-text-fill-color: transparent;\n  font-weight:bold;\n}\n.cta-btn-nipt-reservation-wimg{\n  text-decoration:none;\n  border-bottom:initial;\n}\n.label-link {\n  align-items: center;\n  text-decoration: none;\n  gap: 8px;\n}\n.image-text-block {\n  text-align: center;\n}\n.tittle_price{\n font-weight:900;\n font-size:2rem;\n color:#e54c84;\n text-align:center;\n border-bottom:none;\n margin-bottom:-10px;\n}\n.box_11 {\n  width: 12px;\n  height: 12px;\n  background-color: #e54c84;\n  border-radius: 2px;\n  flex-shrink: 0;\n}\n.center-container {\n  text-align: center;\n}\n.label-box{\ndisplay:block;\nfont-size:1.3rem !important;\nfont-weight:900;\ncolor:#e54c84;\ntext-align:right;\n}\n<\/style>\n\n\n\n\n\n<h3>\u2460 What is Carrier Screening Test 228 at Hiro Clinic?<\/h3>\n<p>Hiro Clinic offers a prenatal screening test that can examine genes associated with up to 228 severe recessive genetic disorders affecting the fetus. This screening is internationally recognized as crucial, with major medical organizations such as the American College of Obstetricians and Gynecologists (ACOG) and the American Society of Human Genetics (ASHG) recommending that information about it be widely provided.<br>\nRecessive genetic disorders are conditions that can develop in a child when both the father and mother carry mutations in the same gene. In this test, genetic material is collected from the oral mucosa (inner cheek) of both the father and mother to check whether both parents carry the same mutation.<\/p>\n\n<figure style=\"margin-bottom:1rem;\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/swab-img.webp\" alt=\"Photo of testing kit\">\n<\/figure>\n\n<p>According to research by Hiro Clinic, approximately 70% of individuals are found to carry one or more recessive gene mutations. This state is known as being a &#8220;carrier&#8221; (gene carrier)\u2014a condition where, despite having no visible symptoms or physical health issues, there is a possibility of passing the gene on to their children.<\/p>\n<p>When both parents carry the same genetic mutation, the risk of their child developing the disease follows these probabilities:<\/p>\n<ul>\n<li>25% chance (1 in 4) of developing the disease<\/li>\n<li>50% chance (1 in 2) of becoming an asymptomatic carrier<\/li>\n<li>25% chance (1 in 4) of inheriting normal genes<\/li>\n<\/ul>\n\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/07\/idenshi-img-en.webp\" alt=\"When both parents carry the same genetic mutation\"><\/figure>\n<p>If high risk is identified through this test, amniocentesis may be recommended as a confirmatory test.<\/p>\n\n\n\n<h3>\u2461 Gene &#8220;Mutations&#8221; Can Sometimes Cause Disease<\/h3>\n<p>Our bodies are built according to genetic information that functions like a blueprint. Humans have approximately 20,000 genes, which are passed down from parents to their children. They contain essential information that determines various characteristics, such as hair color, height, and physical constitution.<br>\nHowever, in rare cases, mutations occur in this blueprint. These mutations can sometimes lead to specific diseases.<br>\nFor example, diseases caused by a mechanism called &#8220;recessive inheritance&#8221; develop only when a child receives the same type of gene mutation from both the father and the mother. Even if only one parent carries the mutation, the individual will not develop the recessive genetic disorder.<br>\nOne example of a recessive genetic disorder involves a mutation in the <i>OCA2<\/i> gene located on chromosome 15. If a child inherits two copies of this mutation\u2014one from the father and one from the mother\u2014the body becomes unable to produce the &#8220;P protein,&#8221; which is essential for synthesizing &#8220;melanin,&#8221; the pigment that determines the color of skin, hair, and eyes. Consequently, melanin is not produced, resulting in a condition known as &#8220;Oculocutaneous Albinism,&#8221; where the skin and hair appear white.<\/p>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image1.png\" alt=\"Diagram explaining how inheriting the same genetic mutation from both parents leads to disease onset through recessive inheritance\"><\/figure>\n<p>In addition, diseases caused by abnormalities in the &#8220;X chromosome&#8221;\u2014a sex chromosome\u2014are known as X-linked recessive disorders, which characteristically affect males more frequently. Because males have only one X chromosome, if a mutation is present, there is no alternative copy to compensate for it, making disease manifestation more likely. On the other hand, females have two X chromosomes; even if one carries an abnormality, as long as the other functions normally, it can compensate for the defect, making disease development far less common.<\/p>\n\n\n\n<h3>\u2462 Inherited Disorders That Can Happen to Anyone<\/h3>\n<p>Recessive genetic diseases are often thought to be rare, but in fact, there are more than 3,000 distinct types. Taken together, it is estimated that 1 to 2 out of every 100 couples may have a child born with a genetic disorder. In other words, this is a topic that concerns everyone.<br>\nFor this reason, undergoing screening prior to or during early pregnancy allows couples to calmly consider their options even if a risk is detected. Options may include selecting healthy embryos through in vitro fertilization (IVF) or confirming the baby&#8217;s condition after pregnancy via amniocentesis.<\/p>\n\n\n\n<h3>\u2463 Also Helpful for Managing Mother and Child Health<\/h3>\n<p>Carrier Screening Test 228 not only provides insight into a child&#8217;s disease risks but also aids in managing the mother&#8217;s health. For example, if risks such as a tendency to bleed\u2014which requires caution during pregnancy\u2014or cardiac disease risks can be identified in advance, doctors can prepare accordingly ahead of time.<\/p>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image3.png\" alt=\"Diagram showing how Carrier Screening Test 228 is also helpful for maternal health management\"><\/figure>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image5.png\" alt=\"Diagram illustrating what can be identified through Carrier Screening Test 228\"><\/figure>\n<p>In this way, Carrier Screening Test 228 serves as valuable support for a reassuring pregnancy and childbirth. At Hiro Clinic, this screening can be combined with <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> (Non-Invasive Prenatal Testing). For patients undergoing <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, Carrier Screening Test 228 is offered at an optional discounted rate. Naturally, individuals who do not undergo <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> can also take this test as a standalone option.<\/p>\n\n\n\n<h3>\u2464 Japanese-Specific Genetic Risks<\/h3>\n<p>In Japan, there was a historical period when marriages between cousins were common, which made it easier for specific gene mutations to persist within the population. Consequently, certain genetic conditions are more prevalent among Japanese people.<br>\nFor example, it has become clear that among eye-related genetic disorders, conditions such as &#8220;retinitis pigmentosa&#8221; and &#8220;fundus albipunctatus&#8221; are particularly frequent in Japan. In particular, the <i>EYS<\/i> gene has been identified as the most frequent causative gene for retinitis pigmentosa in Japanese individuals. Because these diseases are often caused by specific gene mutations, they are surprisingly relevant and close to home.<\/p>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image4.png\" alt=\"Diagram showing hereditary eye diseases common in Japan, such as retinitis pigmentosa\"><\/figure>\n<p>Such genetic mutations specific to the Japanese population are sometimes not included in overseas databases. Therefore, Carrier Screening Test 228, which is tailored specifically for Japanese individuals, is extraordinarily important.<\/p>\n\n\n\n<h3>\u2465 Toward Future Healthcare: A Fair Society Where Everyone Has Choices<\/h3>\n<p>Future healthcare will focus on &#8220;preventing disease&#8221; rather than simply &#8220;treating disease after it occurs.&#8221; Carrier Screening Test 228 represents a vital first step in this direction.<br>\nIn countries like Australia and the Netherlands, initiatives are underway to incorporate recessive gene testing into national healthcare systems. In Japan, too, there is a growing need to establish systems that allow insurance coverage so that all couples can access screening fairly.<br>\nAt Hiro Clinic, we recommend Carrier Screening Test 228 for couples, including as part of a pre-marital bridal checkup before pregnancy. Undergoing testing early provides essential decision-making information for future family planning, pregnancy, and childbirth. It allows couples to share results and calmly prepare for delivery.<br>\nFurthermore, performing Carrier Screening Test 228 on newborn infants enables early detection of future health risks, facilitating personalized healthcare management. The test can be performed painlessly simply by collecting a sample with a gentle cheek swab.<br>\nThis screening represents a choice to &#8220;know,&#8221; aiming to protect future lives. Making this test\u2014which is recommended by major medical societies in the United States\u2014widely understood and accessible to many in Japan is what modern healthcare strives to achieve.<\/p>\n\n\n\n<div class=\"sanko\">\n<h3 style=\"border-bottom:1px solid #e54c84;\">\u53c2\u8003\u30fb\u5f15\u7528\u6587\u732e<\/h3>\n<ul>\n<li>Li, Huanyun, et al. \u2018P806: Application Value of Noninvasive Prenatal Diagnosis of Recessive Monogenic Genetic Diseases Based on Relative Haplotype Dosage Changes\u2019. Genetics in Medicine Open, vol. 3, 2025, p. 103175. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1016\/j.gimo.2025.103175\">https:\/\/doi.org\/10.1016\/j.gimo.2025.103175<\/a>.<\/li>\n<li>Temaj, G., et al. \u2018The Impact of Consanguinity on Human Health and Disease with an Emphasis on Rare Diseases\u2019. Journal of Rare Diseases, vol. 1, no. 1, Dec. 2022, p. 2. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1007\/s44162-022-00004-5\">https:\/\/doi.org\/10.1007\/s44162-022-00004-5<\/a>.<\/li>\n<li>Peterlin, Borut, and Ana Peterlin. \u2018Carrier Screening and Pregnancy\u2019. Best Practice &#038; Research Clinical Obstetrics &#038; Gynaecology, vol. 100, June 2025, p. 102601. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1016\/j.bpobgyn.2025.102601\">https:\/\/doi.org\/10.1016\/j.bpobgyn.2025.102601<\/a>.<\/li>\n<li>Hotta, Yoshihiro, et al. \u2018Ocular Genetics in the Japanese Population\u2019. Japanese Journal of Ophthalmology, vol. 68, no. 5, Sept. 2024, pp. 401\u201318. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1007\/s10384-024-01109-8\">https:\/\/doi.org\/10.1007\/s10384-024-01109-8<\/a>.<\/li>\n<li>Wang, Tianjiao, et al. \u2018An Overview of Reproductive Carrier Screening Panels for Autosomal Recessive and\/or X\u2010linked Conditions: How Much Do We Know?\u2019 Prenatal Diagnosis, vol. 43, no. 11, Oct. 2023, pp. 1416\u201324. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1002\/pd.6434\">https:\/\/doi.org\/10.1002\/pd.6434<\/a>.<\/li>\n<li>Dive, Lisa, et al. \u2018Ethical Considerations in Gene Selection for Reproductive Carrier Screening\u2019. Human Genetics, vol. 141, no. 5, May 2022, pp. 1003\u201312. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1007\/s00439-021-02341-9\">https:\/\/doi.org\/10.1007\/s00439-021-02341-9<\/a>.<\/li>\n<li>Edwards, Samantha, and Nigel Laing. \u2018Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review\u2019. Journal of Personalized Medicine, vol. 12, no. 10, Oct. 2022, p. 1699. DOI.org (Crossref), <a  href=\"https:\/\/doi.org\/10.3390\/jpm12101699\">https:\/\/doi.org\/10.3390\/jpm12101699<\/a>.<\/li>\n<li>Prabhu, Akshatha. \u2018Fetal Medicine and Current Practice of Prenatal Screening\u2019. Apollo Medicine, vol. 20, no. 2, June 2023, pp. 135\u201338. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.4103\/am.am_60_23\">https:\/\/doi.org\/10.4103\/am.am_60_23<\/a>.<\/li>\n<li>Veneruso, Iolanda, et al. \u2018Current Updates on Expanded Carrier Screening: New Insights in the Omics Era\u2019. Medicina, vol. 58, no. 3, Mar. 2022, p. 455. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.3390\/medicina58030455\">https:\/\/doi.org\/10.3390\/medicina58030455<\/a>.<\/li>\n<li>Srinivasan, Balaji S., et al. \u2018A Universal Carrier Test for the Long Tail of Mendelian Disease\u2019. Reproductive BioMedicine Online, vol. 21, no. 4, Oct. 2010, pp. 537\u201351. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1016\/j.rbmo.2010.05.012\">https:\/\/doi.org\/10.1016\/j.rbmo.2010.05.012<\/a>.<\/li>\n<li>Nguengang Wakap, St\u00e9phanie, et al. \u2018Estimating Cumulative Point Prevalence of Rare Diseases: Analysis of the Orphanet Database\u2019. European Journal of Human Genetics, vol. 28, no. 2, Feb. 2020, pp. 165\u201373. www.nature.com, <a href=\"https:\/\/doi.org\/10.1038\/s41431-019-0508-0\">https:\/\/doi.org\/10.1038\/s41431-019-0508-0<\/a>.<\/li>\n<li>Chung, Brian Hon Yin, et al. \u2018Rare versus Common Diseases: A False Dichotomy in Precision Medicine\u2019. Npj Genomic Medicine, vol. 6, no. 1, Feb. 2021, p. 19. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1038\/s41525-021-00176-x\">https:\/\/doi.org\/10.1038\/s41525-021-00176-x<\/a>.<\/li>\n<li>Faye, Fatoumata, et al. \u2018Time to Diagnosis and Determinants of Diagnostic Delays of People Living with a Rare Disease: Results of a Rare Barometer Retrospective Patient Survey\u2019. European Journal of Human Genetics, vol. 32, no. 9, Sept. 2024, pp. 1116\u201326. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1038\/s41431-024-01604-z\">https:\/\/doi.org\/10.1038\/s41431-024-01604-z<\/a>.<\/li>\n<li>Laing, Nigel G., et al. \u2018Genetic Neuromuscular Disorders: What Is the Best That We Can Do?\u2019 Neuromuscular Disorders, vol. 31, no. 10, Oct. 2021, pp. 1081\u201389. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1016\/j.nmd.2021.07.007\">https:\/\/doi.org\/10.1016\/j.nmd.2021.07.007<\/a>.<\/li>\n<li><a href=\"https:\/\/www.info.pmda.go.jp\/downfiles\/md\/PDF\/200880\/200880_28B3X10006000050_A_01_01.pdf\">https:\/\/www.info.pmda.go.jp\/downfiles\/md\/PDF\/200880\/200880_28B3X10006000050_A_01_01.pdf<\/a><\/li>\n<\/ul>\n<\/div>\n<style>\nfigure{\n  max-width:800px;\n  margin:0 auto;\n  text-align:center;\n}\n.sanko ul{\n  font-size:0.8rem;\n}\n.sanko ul li{\n  line-height:1.2;\n}\n<\/style>\n\n\n\n<section class=\"test-scope\">\n    <h2>Which conditions are covered, where the test is run, and what it costs<\/h2>\n    <p style=\"text-align:center;max-width:860px;margin:0 auto 1.5rem;\">Hiro Clinic <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> offers two carrier screening tests: the standard test covering <strong>228 conditions<\/strong> (<strong>220,000 yen, tax included<\/strong>) and a test covering <strong>more than 1,200 conditions<\/strong> using exome analysis (<strong>330,000 yen, tax included<\/strong>). Both require only a swab from the inside of the cheek.<\/p>\n    <div class=\"scope-table-wrap\">\n        <table class=\"scope-table\">\n            <thead>\n                <tr><th>Test<\/th><th>Conditions covered<\/th><th>Price (tax incl.)<\/th><th>Where the test is run<\/th><th>Time to results<\/th><\/tr>\n            <\/thead>\n            <tbody>\n                <tr><td><strong>Carrier Screening Test 228<\/strong><span class=\"scope-note\">standard<\/span><\/td><td><strong>228 conditions<\/strong><\/td><td><strong>220,000 yen<\/strong><\/td><td>Japan<\/td><td>about 3 weeks<\/td><\/tr>\n                <tr><td><strong>Carrier Screening Test 1,200+<\/strong><span class=\"scope-note\">exome analysis is performed first<\/span><\/td><td><strong>1,200+ conditions<\/strong><\/td><td><strong>330,000 yen<\/strong><\/td><td>Japan<\/td><td>5 to 7 weeks<\/td><\/tr>\n            <\/tbody>\n        <\/table>\n    <\/div>\n<\/section>\n<style>\n.test-scope{ max-width:900px; margin:0 auto 2rem; padding:0 15px; }\n.test-scope h2{ text-align:center; }\n.scope-table-wrap{ overflow-x:auto; }\n.scope-table{ width:100%; border-collapse:collapse; font-size:0.95rem; }\n.scope-table th, .scope-table td{ border:1px solid #e5c3d2; padding:12px 14px; text-align:center; vertical-align:middle; }\n.scope-table thead th{ background-color:#f3e2e9; }\n.scope-table td:first-child{ text-align:left; }\n.scope-note{ display:block; font-size:0.8rem; color:#666; margin-top:4px; }\n<\/style>\n\n\n\n<section>\n    <h2>Testing Process<\/h2>\n    <p style=\"text-align:center;\">Carrier Screening Test 228 is completed in 3 simple steps: applying at the clinic, collecting a buccal (inner cheek) swab, and receiving email results approximately 3 weeks later.<\/p>\n    <div class=\"stepbar\">\n\n        <div class=\"stepbarwrap\">\n            <div class=\"steptitle\">\n                <span class=\"stepcircle\"><\/span>\n                <span class=\"stepnum\">Step 1<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">Apply for the Test at the Clinic<\/p>\n                <span class=\"txt\">At the time of application, consent forms must be filled out by both the expectant mother and her partner.<br>The testing kit will be provided during your visit.<br>\u203bBoth the pregnant mother and her partner must visit the clinic together.<\/span>\n            <\/div>\n            <span class=\"stepline\"><\/span>\n        <\/div>\n\n        <div class=\"stepbarwrap\">\n            <div class=\"steptitle\">\n                <span class=\"stepcircle\"><\/span>\n                <span class=\"stepnum\">Step 2<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n               <!-- <p class=\"title\">The testing kit arrives at your home<\/p> -->\n                <span class=\"txt\">Rub the shaft of the testing swab against the inner cheek mucosa (inside the mouth) to collect cells.<br>\u203bPlease refrain from smoking, eating, drinking, brushing teeth, or chewing gum within 30 minutes prior to collection.<br>Hand in the collected sample at the clinic before leaving.<\/span>\n            <\/div>\n            <span class=\"stepline\"><\/span>\n        <\/div>\n\n        <div class=\"stepbarwrap\">\n            <div class=\"steptitle\">\n                <span class=\"stepcircle\"><\/span>\n                <span class=\"stepnum\">Step 3<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">Test Results Notification<\/p>\n                <span class=\"txt\">Results will be delivered via email approximately 3 weeks later.<br>\u203bThis report is separate from the results of the maternal blood test.<br>\u203bThe test results will be ready approximately 3 weeks after the sample arrives at the laboratory.<\/span>\n            <\/div>\n            <span class=\"stepline\"><\/span>\n        <\/div>\n\n   <!--     <div class=\"stepbarwrap\">\n            <div class=\"steptitle\">\n                <span class=\"stepcircle\"><\/span>\n                <span class=\"stepnum\">Step 4<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">Return the Testing Kit<\/p>\n                <span class=\"txt\">Place the collected sample in the Letter Pack envelope and post it in a nearby mailbox.<\/span>\n            <\/div>\n            <span class=\"stepline\"><\/span>\n        <\/div>\n\n        <div class=\"stepbarwrap\">\n            <div class=\"steptitle\">\n                <span class=\"stepcircle\"><\/span>\n                <span class=\"stepnum\">Step 5<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">Test Results Notification<\/p>\n                <span class=\"txt\">Results will be sent via email approximately 1 month later.<br>\u203bThis report is separate from the domestic test results obtained via the expectant mother's blood sample.<br>\u203bThe test report will be provided approximately 1 month after the returned kit arrives at the laboratory.<\/span>\n            <\/div> -->\n            <span class=\"stepline\"><\/span>\n        <\/div>\n    <\/div>\n<\/section>\n\n<style>\n.stepbar {\n  margin: 0 auto;\n  width: 80%;\n}\n\n.stepbar .stepbarwrap {\n  margin: 2em 0;\n  position: relative;\n}\n\n.stepbar .stepbarwrap .steptitle {\n  display: inline-flex;\n  align-items: center;\n}\n\n.stepbar .stepbarwrap .steptitle .stepcircle {\n  display: inline-block;\n  width: 1em;\n  height: 1em;\n  content: \"\";\n  border-radius: 50%;\n  background-color: #fff;\n  border: 1px solid #000;\n}\n\n.stepbar .stepbarwrap .steptitle .stepnum {\n  color:#ED9027;\n  font-weight: bold;\n  font-size: 1.2rem;\n}\n\n.stepbar .stepbarwrap .steptxt {\n  padding-left: 2em;\n}\n\n.stepbar .stepbarwrap .steptxt .title {\n  margin: 0.5em 0;\n  font-weight: bold;\n  font-size: 1.2em;\n}\n\n.stepbar .stepbarwrap .steptxt .txt {\n  font-size: 0.9em;\n}\n\n.stepbar .stepbarwrap .stepline {\n  width: 1px;\n  height: calc(100% + 1em);\n  background-color: #000;\n  position: absolute;\n  top: 1em;\n  left: 0.5em;\n  z-index: -1;\n}\n\n.stepbarwrap:last-of-type .stepline:last-of-type {\n  display: none;\n}\n@media screen and (max-width: 960px) {\n  .stepbar {\n    width: 90%;\n  }\n}\n<\/style>\n\n\n\n<div class=\"section-separator\">\n   <h2>Optional Pricing for<br class=\"sp-only\">Carrier Screening Test 228<\/h2>\n   <p style=\"text-align:center;margin:0 auto;max-width:800px;\">When ordered together with <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, Carrier Screening Test 228 is available at a discounted optional price. Standalone testing is also available.<\/p>\n   <div class=\"button_moji\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/plan\/option\/\">Click Here for Optional Pricing<\/a><\/div>\n <\/div>\n    \n    \n <div class=\"box_content\" style=\"text-align:center;\">\n    <div class=\"image-container\">\n        <div class=\"pc-only\">\n            <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/07\/228-plan-en.webp\" alt=\"Testing for Up to 228 Recessive Genetic Disorders PC View\">\n            \n            <\/div>\n            <div class=\"sp-only\">\n            <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/228-plan-sp.webp\" alt=\"Testing for 228 Recessive Genetic Disorders Mobile View\">\n            <\/div>\n    <\/div>\n   <\/div>\n   \n   <style>\n    .button_moji {\n        font-weight: 700;\n        font-size: 1.6rem;\n        text-align: center;\n    }\n    .button_moji {\n        color: #e54c84;\n        background-color: #fff;\n        border-bottom: 5px solid #e54c84;\n        width: 60%;\n        margin:0 auto;\n    }\n    .button_moji {\n    border: 6px ridge #de0c59;\n  }\n    .box_content img {\n        width: 100%;\n    }\n   .plan_list{\n     text-align: center;\n     font-weight: 700;\n     color: #e54c84;\n     padding-top: 50px;\n   }\n   .image-container {\n     display: inline-block;\n     cursor: pointer;\n     text-align: center;\n   }\n   \n   .small-image {\n     width: 100%;\n   }\n   @media screen and (max-width: 700px) {\n      .pc-only {\n        display: none;\n      }\n    }\n    @media screen and (min-width: 701px) {\n      .sp-only {\n        display: none;\n      }\n    }\n   <\/style>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"section-separator\">\n<h2 class=\"wp-block-heading\">How Recessive Genetic Disorders Develop<\/h2>\n<p>Humans have two copies of each chromosome: one inherited from the mother and one from the father.<\/p>\n<p>A recessive genetic disorder occurs when there is a mutation in the genes located at the same position on both of these chromosomes. If only one chromosome\u2014either from the mother or the father\u2014has a mutation, but the corresponding gene on the other chromosome is normal, the disorder will not develop. As long as one copy is normal, the individual will not become ill, and that person is referred to as a &#8220;carrier.&#8221;<\/p>\n<p>The risk increases when biological relatives have children together because the likelihood of sharing the same carrier status is higher among relatives. For example, in a rare condition that affects 1 in 40,000 individuals, the carrier rate is estimated to be approximately 1 in 100. This is based on the calculation: 1\/100 \u00d7 1\/100 \u00d7 1\/4 = 1\/40,000. Therefore, if you test for 100 different conditions, <strong>it is likely that almost everyone is a carrier of at least one condition<\/strong>.<\/p>\n<p>So, what happens if our clinic&#8217;s test detects a mutation at the exact same gene location in both parents?<\/p>\n<p>If both parents happen to carry a mutation in the same gene, their child is at risk for developing a recessive genetic disorder. This is because there is no normal copy at that gene location, making disease onset possible.<\/p>\n<div style=\"border: 1px dotted #e54c84; padding: 1rem 2rem; max-width: 400px; margin-bottom: 1rem;\">\n    <ul>\n      <li>1 in 4 fetuses (25%) will be affected.<\/li>\n      <li>1 in 2 fetuses (50%) will be carriers.<\/li>\n      <li>1 in 4 fetuses (25%) will be unaffected.<\/li>\n    <\/ul>\n  <\/div>\n<p>How can we check if the baby has inherited these mutations?<\/p>\n<p><strong>One of the most accurate methods to detect genetic abnormalities is amniocentesis.<\/strong> In this test, genetic analysis is performed using fetal cells obtained from the amniotic fluid.<\/p>\n<p>By enrolling in our Amniocentesis Support program, you can receive up to \u00a5300,000 (tax included) in subsidies depending on your plan. In many cases, this covers the entire cost of the amniocentesis, allowing you to undergo the test at no out-of-pocket expense.<br>If you wish to undergo testing, please contact Hiro Clinic.<\/p>\n<\/div>\n<\/div><\/div>\n\n\n\n<div class=\"newcta\">\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\n  <p class=\"jisseki mincho\">Our <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Track Record <span class=\"big\">Over 75,000<span> cases<\/span><\/span><\/p>\n  <p class=\"res-btn\">Check Availability &#038; Book Now<\/p>\n <\/a>\n<\/div>\n<style>\n.newcta{\n  margin:1rem auto 2rem;\n}\n.newcta a{\n  width:100%;\n  max-width:500px;\n  margin:0 auto;\n  display:block;\n  text-decoration:none;\n  text-align:center;\n}\n.newcta p{\n  margin:0 auto;\n}\n.newcta .jisseki{\n  margin:0 auto;\n  position:relative;\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\n  -webkit-background-clip: text;\n  color: rgba(0,0,0,0);\n  font-weight:bold;\n  display:inline-flex;\n  flex-wrap:wrap;\n  align-items:center;\n  justify-content:center;\n  gap:.5rem;\n  padding-bottom:1rem;\n}\n.newcta .jisseki span{\n  font-size:2rem;\n}\n.newcta .jisseki span span{\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n}\n.newcta .res-btn{\n  display:inline-block;\n  background:#f0a3b8;\n  padding:1.5rem 2rem;\n  text-align:center;\n  border-radius:1rem;\n  box-shadow:0 .5rem .5rem #f0a3b866;\n  color:#fff;\n  font-size:1.2rem;\n  font-weight:bold;\n  letter-spacing:.2rem;\n  min-width:320px;\n}\n@media screen and (max-width:500px){\n  .newcta .jisseki .big{\n    width:100%;\n  }\n  .newcta .res-btn{\n    padding:1.5rem 0;\n  }\n}\n<\/style>\n<div class=\"old-cta\">\n<div class=\"container\" style=\"padding:10px\">\n<div class=\"nipt-bnr mincho\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\n<p class=\"jisseki font-s gothic\">Our <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Track Record<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span> cases<\/p>\n<p class=\"res font-s gothic\">Book an Appointment \u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\n<\/a>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\n <div class=\"image-text-block\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/20th-anniversary\/\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-en-1.webp\" style=\"width:100%\"><\/a>\n <\/div>\n<\/div>\n<style>\n.old-cta{\n  display:none;\n}\n.nipt-bnr{\n  display:flex;\n  justify-content:center;\n  align-items:center;\n  width:calc(100% - 3rem);\n  min-width:350px;\n  max-width:480px;\n  aspect-ratio:11 \/ 5;\n  position:relative;\n  margin:1rem auto;\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\n  border-radius:8px;\n  box-shadow:6px 6px 6px #999;\n}\n.nipt-bnr .gold{\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\n  -webkit-background-clip: text;\n  -webkit-text-fill-color: transparent;\n  font-weight:bold;\n}\n.cta-btn-nipt-reservation-wimg{\n  text-decoration:none;\n  border-bottom:initial;\n}\n.label-link {\n  align-items: center;\n  text-decoration: none;\n  gap: 8px;\n}\n.image-text-block {\n  text-align: center;\n}\n.tittle_price{\n font-weight:900;\n font-size:2rem;\n color:#e54c84;\n text-align:center;\n border-bottom:none;\n margin-bottom:-10px;\n}\n.box_11 {\n  width: 12px;\n  height: 12px;\n  background-color: #e54c84;\n  border-radius: 2px;\n  flex-shrink: 0;\n}\n.center-container {\n  text-align: center;\n}\n.label-box{\ndisplay:block;\nfont-size:1.3rem !important;\nfont-weight:900;\ncolor:#e54c84;\ntext-align:right;\n}\n<\/style>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">Recessive Genetic Disorders Identified by Hiro Clinic NIPT<\/h2>\n<\/div><\/div>\n\n\n\n<p style=\"max-width:820px;margin:0 auto 1rem;\">Carrier Screening Test 228 examines causative genes for up to 228 types of recessive genetic disorders. You can also view detailed pages by clicking on the disease name of interest.<\/p>\n<div class=\"disease_list_holder\">\n    <table class=\"disease_list\">\n<tr>\n<th>Disease Name (JP)<\/th>\n<th>Disease Name (EN)<\/th>\n<th>Genes Tested at Our Clinic<\/th>\n<th>Chromosome Location<\/th>\n<th>Detailed Information<\/th>\n<\/tr>\n<tr>\n            <td>3-\u30d2\u30c9\u30ed\u30ad\u30b7-3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30eb\u9178\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/901\">3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HMGCL&#038;keywords=HMGCL\">HMGCL<\/a><\/td>\n            <td><a href=\"\"><\/a><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a>.1<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-hydroxy-3-methylglutaryl-coenzyme-a-lyase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e9\u30a4\u30c7\u30a3\u30c3\u30d2\u7d30\u80de\u5f62\u6210\u4e0d\u5168(\u9ec4\u4f53\u5f62\u6210\u30db\u30eb\u30e2\u30f3\u62b5\u6297\u6027)<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/leydig-cell-hypoplasia\/\">Leydig Cell Hypoplasia [Luteinizing Hormone Resistance]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LHCGR&#038;keywords=LHCGR\">LHCGR<\/a><\/td>\n            <td><a href=\"\">2p16.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leydig-cell-hypoplasia-luteinizing-hormone-resistance\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>3-\u30e1\u30c1\u30eb\u30af\u30ed\u30c8\u30cb\u30ebCoA\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_027\/\">3-Methylcrotonyl-CoA Carboxylase Deficiency 1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MCCC1&#038;keywords=MCCC1\">MCCC1<\/a><\/td>\n            <td><a href=\"\">3q27.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-methylcrotonyl-coa-carboxylase-deficiency-1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u2161E\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4523\">Limb Girdle Muscular Dystrophy, Type 2E<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SGCB&#038;keywords=SGCB\">SGCB<\/a><\/td>\n            <td><a href=\"\">4q12<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2e\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>3-\u30e1\u30c1\u30eb\u30af\u30ed\u30c8\u30cb\u30ebCoA\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u75c72\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_032\/\">3-Methylcrotonyl-CoA Carboxylase Deficiency 2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MCCC2&#038;keywords=MCCC2\">MCCC2<\/a><\/td>\n            <td><a href=\"\">5q13.2<\/a><\/td>\n            <td>\u2015<\/td>\n        <\/tr>\n<tr>\n            <td>\u30b8\u30d2\u30c9\u30ed\u30ea\u30dd\u30a2\u30df\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7(\u30e1\u30fc\u30d7\u30eb\u30b7\u30ed\u30c3\u30d7\u5c3f\u75c7III\u578b)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4813\">Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DLD&#038;keywords=DLD\">DLD<\/a><\/td>\n            <td><a href=\"\">7q31.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoamide-dehydrogenase-deficiency-maple-syrup-urine-disease-type-3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7121\u03b2\u30ea\u30dd\u86cb\u767d\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4573\">Abetalipoproteinemia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MTTP&#038;keywords=MTTP\">MTTP<\/a><\/td>\n            <td><a href=\"\">4q23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/abetalipoproteinemia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ea\u30dd\u30bf\u30f3\u30d1\u30af\u8cea\u30ea\u30d1\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4884\">Lipoprotein Lipase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LPL&#038;keywords=LPL\">LPL<\/a><\/td>\n            <td><a href=\"\">8p21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoprotein-lipase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30b7\u30ebCoA\u30aa\u30ad\u30b7\u30c0\u30fc\u30bcI\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\">Acyl-CoA Oxidase I Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ACOX1&#038;keywords=ACOX1\">ACOX1<\/a><\/td>\n            <td><a href=\"\">17q25.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/acyl-coa-oxidase-i-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30aa\u30fc\u30e1\u30f3\u75c7\u5019\u7fa4(RAG2\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Omenn Syndrome (RAG2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RAG2&#038;keywords=RAG2\">RAG2<\/a><\/td>\n            <td><a href=\"\">11p12<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/omenn-syndrome-rag2-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u795e\u7d4c\u6709\u68d8\u8d64\u8840\u7403\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4051\">Chorea-acanthocytosis<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VPS13A&#038;keywords=VPS13A\">VPS13A<\/a><\/td>\n            <td><a href=\"\">9q21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VPS13A&#038;keywords=VPS13A\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30aa\u30eb\u30cb\u30c1\u30f3\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/841\">Ornithine Aminotransferase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=OAT&#038;keywords=OAT\">OAT<\/a><\/td>\n            <td><a href=\"\">10q26.13<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-aminotransferase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>X\u9023\u9396\u6027\u8108\u7d61\u819c\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\">Choroideremia, X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CHM&#038;keywords=CHM\">CHM<\/a><\/td>\n            <td><a href=\"\">Xq21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/choroideremia-x-linked\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7-\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7-\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c7\uff08HHH\uff09\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/841\">Ornithine Translocase Deficiency Hyperornithinemia-Hyperammonemia -Homocitrullinuria (HHH) Syndrome]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC25A15&#038;keywords=SLC25A15\">SLC25A15<\/a><\/td>\n            <td><a href=\"\">13q14.11<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-translocase-deficiency-hyperornithinemia-hyperammonemia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b7\u30c8\u30ea\u30f3\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5434\">Citrin Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC25A13&#038;keywords=SLC25A13\">SLC25A13<\/a><\/td>\n            <td><a href=\"\">7q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/citrin-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30da\u30f3\u30c9\u30ec\u30c3\u30c9\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3147\">Pendred Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC26A4&#038;keywords=SLC26A4\">SLC26A4<\/a><\/td>\n            <td><a href=\"\">7q22.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pendred-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c73<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/335\">Combined Oxidative Phosphorylation Deficiency 3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TSFM&#038;keywords=TSFM\">TSFM<\/a><\/td>\n            <td><a href=\"\">12q14.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30bc\u30eb\u30a6\u30a7\u30fc\u30ac\u30fc\u30b9\u30da\u30af\u30c8\u30eb\u75c7\u5019\u7fa4\uff08PEX1\uff09<\/td>\n            <td><a href=\"https:\/\/www.genedx.com\/\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX1&#038;keywords=PEX1\">PEX1<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex1-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7570\u5e38\u75c7\u2160\u578b(PMM2\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5410\">Congenital Disorder of Glycosylation, Type 1A (PMM2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PMM2&#038;keywords=PMM2\">PMM2<\/a><\/td>\n            <td><a href=\"\">16p13.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-disorder-of-glycosylation-type-1a-pmm2-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30bc\u30eb\u30a6\u30a7\u30fc\u30ac\u30fc\u30b9\u30da\u30af\u30c8\u30eb\u75c7\u5019\u7fa4\uff08PEX2\uff09<\/td>\n            <td><a href=\"https:\/\/www.genedx.com\/\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX2&#038;keywords=PEX2\">PEX2<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex2-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u907a\u4f1d\u6027\u30d5\u30eb\u30af\u30c8\u30fc\u30b9\u4e0d\u8010\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/instructions\/08_05_059\/\">Hereditary Fructose Intolerance<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALDOB&#038;keywords=ALDOB\">ALDOB<\/a><\/td>\n            <td><a href=\"\">9q31.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hereditary-fructose-intolerance\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30c4\u30a7\u30eb\u30a6\u30a7\u30ac\u30fc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX1&#038;keywords=PEX1\">PEX1<\/a><\/td>\n            <td><a href=\"\">7q21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex1-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7cblE\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4860\">Homocystinuria, Type cblE<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MTRR&#038;keywords=MTRR\">MTRR<\/a><\/td>\n            <td><a href=\"\">5p15.31<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/homocystinuria-type-cble\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>X\u9023\u9396\u91cd\u75c7\u8907\u5408\u514d\u75ab\u4e0d\u5168\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/10_01_001\/#:~:text=X%2DSCID%E3%81%AFX%E9%80%A3%E9%8E%96,%E7%9A%84%E3%81%AA%E7%95%B0%E5%B8%B8%E3%81%A7%E3%81%82%E3%82%8B%E3%80%82\">Severe Combined Immunodeficiency, X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=IL2RG&#038;keywords=IL2RG\">IL2RG<\/a><\/td>\n            <td><a href=\"\">Xq13.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/severe-combined-immunodeficiency-x-linked\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30cf\u30a4\u30c9\u30ed\u30ec\u30bf\u30e9\u30b9\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hydrolethalus-syndrome\/\">Hydrolethalus Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HYLS1&#038;keywords=HYLS1\">HYLS1<\/a><\/td>\n            <td><a href=\"\">11q24.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/nipt\/autosomal-recessive-inheritance\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u938c\u72b6\u8d64\u8840\u7403\u75c7<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%9B%E3%83%BC%E3%83%A0\/13-%E8%A1%80%E6%B6%B2%E3%81%AE%E7%97%85%E6%B0%97\/%E8%B2%A7%E8%A1%80\/%E9%8E%8C%E7%8A%B6%E8%B5%A4%E8%A1%80%E7%90%83%E7%97%87#:~:text=%E9%8E%8C%E7%8A%B6%E8%B5%A4%E8%A1%80%E7%90%83%E7%97%87%E3%81%AF,%E9%BB%84%E7%96%B8%E3%81%8C%E3%81%BF%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%80%82\">Sickle-Cell Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HBB&#038;keywords=HBB\">HBB<\/a><\/td>\n            <td><a href=\"\">11p15.4<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sickle-cell-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5c01\u5165\u4f53\u30df\u30aa\u30d1\u30c1\u30fc\u2161\u578b(GNE\u30df\u30aa\u30d1\u30c1\u30fc)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4002\">Inclusion Body Myopathy, Type 2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GNE&#038;keywords=GNE\">GNE<\/a><\/td>\n            <td><a href=\"\">9p13.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/inclusion-body-myopathy-type-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b7\u30a7\u30fc\u30b0\u30ec\u30f3\u30fb\u30e9\u30eb\u30bd\u30f3\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/288\">Sj\u00f6gren-Larsson Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALDH3A2&#038;keywords=ALDH3A2\">ALDH3A2<\/a><\/td>\n            <td><a href=\"\">17p11.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sjogren-larsson-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a4\u30bd\u5409\u8349\u9178\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4817\">Isovaleric Acidemia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=IVD&#038;keywords=IVD\">IVD<\/a><\/td>\n            <td><a href=\"\">15q15.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/isovaleric-acidemia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u4e00\u6b21\u6027\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4516\">Steroid-Resistant Nephrotic Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NPHS2&#038;keywords=NPHS2\">NPHS2<\/a><\/td>\n            <td><a href=\"\">1q25.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/steroid-resistant-nephrotic-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7MUT0\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Aciduria, Type Mut(0)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMUT\">MMACHC<\/a><\/td>\n            <td><a href=\"\">1p34.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-type-mut0\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b9\u30c8\u30a5\u30fc\u30d6\u30fb\u30a6\u30a3\u30fc\u30c9\u30e1\u30f3\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3958\">Stuve-Wiedemann Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LIFR&#038;keywords=LIFR\">LIFR<\/a><\/td>\n            <td><a href=\"\">5p13.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/stuve-wiedemann-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u3092\u4f34\u3046\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7cblD\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Aciduria and Homocystinuria, Type cblD<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMACHC&#038;keywords=MMACHC\">MMADHC<\/a><\/td>\n            <td><a href=\"\">2q23.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-and-homocystinuria-type-cbld\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4(BBS12\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/858\">Bardet Biedl Syndrome (BBS12-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BBS12&#038;keywords=BBS12\">BBS12<\/a><\/td>\n            <td><a href=\"\">4q27<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-bbs12-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e0\u30b3\u591a\u7cd6\u75c7\u2161\u578b(\u30cf\u30f3\u30bf\u30fc\u75c7\u5019\u7fa4\u3001X\u9023\u9396\u6027)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_076\/\">Mucopolysaccharidosis, Type II [Hunter Syndrome], X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=IDS&#038;keywords=IDS\">IDS<\/a><\/td>\n            <td><a href=\"\">Xq28<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-ii-hunter-syndrome-x-linked\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d9\u30fc\u30bf\u30b5\u30e9\u30bb\u30df\u30a2<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/847\">Beta Thalassemia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HBB&#038;keywords=HBB\">HBB<\/a><\/td>\n            <td><a href=\"\">11p15.4<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/beta-thalassemia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e0\u30b3\u591a\u7cd6\u75c7III\u578b(\u30b5\u30f3\u30d5\u30a3\u30ea\u30c3\u30dd\u75c7\u5019\u7fa4\uff09<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_077\/\">Mucopolysaccharidosis, Type IIIC [Sanfilippo C]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HGSNAT&#038;keywords=HGSNAT\">HGSNAT<\/a><\/td>\n            <td><a href=\"\">8p11.21-p11.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-iiic-sanfilippo-c\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d3\u30aa\u30c1\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4826\">Biotinidase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BTD&#038;keywords=BTD\">BTD<\/a><\/td>\n            <td><a href=\"\">3p25.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/biotinidase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30de\u30eb\u30c1\u30d7\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_094\/\">Multiple Sulfatase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SUMF1&#038;keywords=SUMF1\">SUMF1<\/a><\/td>\n            <td><a href=\"\">3p26<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/multiple-sulfatase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ab\u30ca\u30d0\u30f3\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/636\">Canavan Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ASPA&#038;keywords=ASPA\">ASPA<\/a><\/td>\n            <td><a href=\"\">17p13.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/canavan-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\uff08DNAH5\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Primary Ciliary Dyskinesia (DNAH5-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DNAH5&#038;keywords=DNAH5\">DNAH5<\/a><\/td>\n            <td><a href=\"\">5p15.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnah5-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ab\u30fc\u30da\u30f3\u30bf\u30fc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4679\">Carpenter Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RAB23&#038;keywords=RAB23\">RAB23<\/a><\/td>\n            <td><a href=\"\">6p12.1-p11.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carpenter-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\uff08DNAI1\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/03_05_007\/\">Primary Ciliary Dyskinesia (DNAI1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DNAI1&#038;keywords=DNAI1\">DNAI1<\/a><\/td>\n            <td><a href=\"\">14q24.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnai1-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7cd6\u539f\u75c5\u2160\u578b(Ia)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_05_066\/\">Glycogen Storage Disease, Type 1A(BBS12-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=G6PC1\">G6PC<\/a><\/td>\n            <td><a href=\"\">17q21<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-1a\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u539f\u767a\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c73\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_035\/\">Primary Hyperoxaluria, Type 3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HOGA1&#038;keywords=HOGA1\">HOGA1<\/a><\/td>\n            <td><a href=\"\">10q24.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-hyperoxaluria-type-3%e3%80%80\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7cd6\u539f\u75c5\u2160\u578b(Ib)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_05_066\/\">Glycogen Storage Disease, Type 1B<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC37A4&#038;keywords=SLC37A4\">SLC37A4<\/a><\/td>\n            <td><a href=\"\">11q23.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-1b\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u6fc3\u5316\u7570\u9aa8\u75c7<\/td>\n            <td><a href=\"https:\/\/webview.isho.jp\/journal\/detail\/abs\/10.11477\/mf.1408904556\">Pycnody sostosis<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CTSK&#038;keywords=CTSK\">CTSK<\/a><\/td>\n            <td><a href=\"\">1q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pycnody-sostosis\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7cd6\u539f\u75c5\u2162\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/41\">Glycogen Storage Disease, Type 3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AGL&#038;keywords=AGL\">AGL<\/a><\/td>\n            <td><a href=\"\">1p21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d4\u30eb\u30d3\u30f3\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4826\">Pyruvate Dehydrogenase Deficiency (PDHB-Related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PDHB&#038;keywords=PDHB\">PDHB<\/a><\/td>\n            <td><a href=\"\">3p14.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-pdhb-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7cd6\u539f\u75c5VII\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4712\">Glycogen Storage Disease, Type 7<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PFKM&#038;keywords=PFKM\">PFKM<\/a><\/td>\n            <td><a href=\"\">12q13.11<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-7\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a8\u30ab\u30eb\u30c7\u30a3\u30fb\u30b0\u30c6\u30a3\u30a8\u30fc\u30eb\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2364\">Aicardi-Gouti\u00e8res Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SAMHD1&#038;keywords=SAMHD1\">SAMHD1<\/a><\/td>\n            <td><a href=\"\">20q11.23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aicardi-goutieres-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b0\u30ec\u30a4\u30b7\u30eb\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gracile-syndrome\/\">GRACILE Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BCS1L&#038;keywords=BCS1L\">BCS1L<\/a><\/td>\n            <td><a href=\"\">2q35<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gracile-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4348\">Alport Syndrome, X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=COL4A5&#038;keywords=COL4A5\">COL4A5<\/a><\/td>\n            <td><a href=\"\">Xq22.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alport-syndrome-x-linked\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u9577\u93963-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5432\">Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HADHA&#038;keywords=HADHA\">HADHA<\/a><\/td>\n            <td><a href=\"\">2p23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30eb\u30b9\u30c8\u30ec\u30fc\u30e0\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/academic-accelerator.com\/Manuscript-Generator\/jp\/Alstrom-Syndrome\">Alstrom Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALMS1&#038;keywords=ALMS1\">ALMS1<\/a><\/td>\n            <td><a href=\"\">2p13.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alstrom-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ea\u30b8\u30f3\u5c3f\u6027\u86cb\u767d\u4e0d\u8010\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4681\">Lysinuric Protein Intolerance<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC7A7&#038;keywords=SLC7A7\">SLC7A7<\/a><\/td>\n            <td><a href=\"\">14q11.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lysinuric-protein-intolerance\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30f3\u30c0\u30fc\u30de\u30f3\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/andermann-syndrome\/#frequency\">Andermann Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC12A6&#038;keywords=SLC12A6\">SLC12A6<\/a><\/td>\n            <td><a href=\"\">15q14<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/andermann-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e1\u30fc\u30d7\u30eb\u30b7\u30ed\u30c3\u30d7\u5c3f\u75c7\u2160B\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4814\">Maple Syrup Urine Disease, Type 1B<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BCKDHB&#038;keywords=BCKDHB\">BCKDHB<\/a><\/td>\n            <td><a href=\"\">6q14.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/maple-syrup-urine-disease-type-1b\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30ed\u30de\u30bf\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/1536\">Aromatase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CYP19A1&#038;keywords=CYP19A1\">CYP19A1<\/a><\/td>\n            <td><a href=\"\">15q21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aromatase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7(MMAA\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Acidemia (MMAA-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMAA&#038;keywords=MMAA\">MMAA<\/a><\/td>\n            <td><a href=\"\">4q31.21<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-acidemia-mmaa-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u91cd\u75c7\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7 (HAX1\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/10_05_035\/\">Congenital Neutropenia (HAX1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HAX1&#038;keywords=HAX1\">HAX1<\/a><\/td>\n            <td><a href=\"\">1q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-neutropenia-hax1-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30af\u30ea\u30b0\u30e9\u30fc\u30fb\u30ca\u30b8\u30e3\u30fc\u75c7\u5019\u7fa4\u2160\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/12_11_034\/\">Crigler Najjar Syndrome, Type I<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=UGT1A1&#038;keywords=UGT1A1\">UGT1A1<\/a><\/td>\n            <td><a href=\"\">2q37.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/crigler-najjar-syndrome-type-i\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30c4\u30a7\u30eb\u30a6\u30a7\u30ac\u30fc\u75c7\u5019\u7fa4\uff08PEX2\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX2&#038;keywords=PEX2\">PEX2<\/a><\/td>\n            <td><a href=\"\">8q21.13<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex2-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u56a2\u80de\u6027\u7dda\u7dad\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4532\">Cystic Fibrosis<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CFTR&#038;keywords=CFTR\">CFTR<\/a><\/td>\n            <td><a href=\"\">7q31.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cystic-fibrosis\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4747\">Phenylketonurea<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PAH&#038;keywords=PAH\">PAH<\/a><\/td>\n            <td><a href=\"\">12q23.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/phenylketonurea\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7b2cXI\u56e0\u5b50\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/09_21_043\/\">Factor XI Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=F11&#038;keywords=F11\">F11<\/a><\/td>\n            <td><a href=\"\">4q35.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/factor-xi-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u51681A\u578b<\/td>\n            <td><a href=\"https:\/\/www.malacards.org\/card\/pontocerebellar_hypoplasia_type_1a_2\">Pontocerebellar Hypoplasia, Type 1A<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VRK1&#038;keywords=VRK1\">VRK1<\/a><\/td>\n            <td><a href=\"\">14q32.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-1a\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u51682D\u578b<\/td>\n            <td><a href=\"https:\/\/www.malacards.org\/card\/pontocerebellar_hypoplasia_type_2d_2\">Pontocerebellar Hypoplasia, Type 2D<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SEPSECS&#038;keywords=SEPSECS\">SEPSECS<\/a><\/td>\n            <td><a href=\"\">4p15.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-2d\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa42\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4552\">Joubert Syndrome, Type 2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TMEM216&#038;keywords=TMEM216\">TMEM216<\/a><\/td>\n            <td><a href=\"\">11q12.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u51682E\u578b<\/td>\n            <td><a href=\"https:\/\/www.malacards.org\/card\/pontocerebellar_hypoplasia_type_2e?search=Pontocerebellar%20Hypoplasia%2C%20Type%202E#sources\">Pontocerebellar Hypoplasia, Type 2E<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VPS53&#038;keywords=VPS53\">VPS53<\/a><\/td>\n            <td><a href=\"\">17p13.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-2e\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c7(\u30d8\u30eb\u30ea\u30c3\u30c4\u578b)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5339\">Junctional Epidermolysis Bullosa, Herlitz Type<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LAMC2&#038;keywords=LAMC2\">LAMC2<\/a><\/td>\n            <td><a href=\"\">1q25.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/junctional-epidermolysis-bullosa-herlitz-type\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30c6\u30a4\u30b5\u30c3\u30af\u30b9\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Tay-Sachs Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HEXA&#038;keywords=HEXA\">HEXA<\/a><\/td>\n            <td><a href=\"\">15q23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tay-sachs-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u8449\u72b6\u9b5a\u9c57\u766c\u2160\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/139\">Lamellar Ichthyosis, Type 1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TGM1&#038;keywords=TGM1\">TGM1<\/a><\/td>\n            <td><a href=\"\">14q12<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lamellar-ichthyosis-type-1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\u30bf\u30a4\u30d71F<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4624\">Usher Syndrome, Type 1F<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PCDH15&#038;keywords=PCDH15\">PCDH15<\/a><\/td>\n            <td><a href=\"\">10q21.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-1f\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ec\u30fc\u30d9\u30eb\u5148\u5929\u6027\u9ed2\u5185\u969c(LCA5\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4660\">Leber Congenital Amaurosis (LCA5-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LCA5&#038;keywords=LCA5\">LCA5<\/a><\/td>\n            <td><a href=\"\">6q14.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-lca5-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\u30bf\u30a4\u30d73<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4624\">Usher Syndrome, Type 3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLRN1&#038;keywords=CLRN1\">CLRN1<\/a><\/td>\n            <td><a href=\"\">3q25.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ea\u30fc\u8133\u75c7(\u30d5\u30e9\u30f3\u30b9-\u30ab\u30ca\u30c0\u578b\uff09<\/td>\n            <td><a href=\"\">Leigh Syndrome, French-Canadian Type<\/a><\/td>\n            <td><a href=\"\">LRPPRC<\/a><\/td>\n            <td><a href=\"\">2p21<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leigh-syndrome-french-canadian-type\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a6\u30a9\u30eb\u30de\u30f3\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Wolman Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LIPA&#038;keywords=LIPA\">LIPA<\/a><\/td>\n            <td><a href=\"\">10q23.31<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/wolman-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>X\u9023\u9396\u6027\u30df\u30aa\u30c1\u30e5\u30d6\u30e9\u30fc\u30df\u30aa\u30d1\u30c1\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4726\">Myotubular Myopathy, X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MTM1&#038;keywords=MTM1\">MTM1<\/a><\/td>\n            <td><a href=\"\">Xq28<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/myotubular-myopathy-x-linked\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5449\">3-Methylglutaconic Aciduria, Type 3 [Costeff Syndrome], <\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=OPA3&#038;keywords=OPA3\">OPA3<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylglutaconuria\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ca\u30d0\u30db\u795e\u7d4c\u809d\u969c\u5bb3(MPV17\u95a2\u9023\u306e\u809d\u8133\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4)<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/mpv17_mtDNADS.htm\">Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MPV17&#038;keywords=MPV17\">MPV17<\/a><\/td>\n            <td><a href=\"\">2p23.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/navajo-neurohepatopathy-mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7121\u03b2\u30ea\u30dd\u30bf\u30f3\u30d1\u30af\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4574\">Abetalipoproteinemia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MTTP&#038;keywords=MTTP\">MTTP<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/beta-lipoproteinemia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7(CLN8\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/cln8-disease\/\">Neuronal Ceroid Lipofuscinosis (CLN8-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLN8&#038;keywords=CLN8\">CLN8<\/a><\/td>\n            <td><a href=\"\">8p23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln8-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u30ea\u30a2\u30fc\u30bc\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4732\">Argininosuccinate Lyase Deficiency, ASL<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ASL&#038;keywords=ASL\">ASL<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/argininosuccinate-lyase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7(MFSD8\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_101\/\">Neuronal Ceroid Lipofuscinosis (MFSD8-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MFSD8&#038;keywords=MFSD8\">MFSD8<\/a><\/td>\n            <td><a href=\"\">4q28.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-mfsd8-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u6027\u904b\u52d5\u5931\u8abf\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2370\">Ataxia-Telangiectasia, ATM<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ATM&#038;keywords=ATM\">ATM<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/telangiectatic-ataxia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7(TPP1\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/instructions\/08_06_101\/\">Neuronal Ceroid Lipofuscinosis (TPP1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TPP1&#038;keywords=TPP1\">TPP1<\/a><\/td>\n            <td><a href=\"\">11p15.4<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-tpp1-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b7\u30e3\u30eb\u30eb\u30dc\u30ef\u30fb\u30b5\u30b0\u30cd\u306e\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u75d9\u6027\u904b\u52d5\u5931\u8abf\u75c7<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/nipt\/autosomal-recessive-inheritance\/\">Autosomal Recessive Spastic Ataxia of Charlevoix- Saguenay, SACS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SACS&#038;keywords=SACS\">SACS<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-sacs\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ca\u30a4\u30df\u30fc\u30d8\u30f3\u67d3\u8272\u4f53\u4e0d\u5b89\u5b9a\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Nijmegen Breakage Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NBN&#038;keywords=NBN\">NBN<\/a><\/td>\n            <td><a href=\"\">8q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nijmegen-breakage-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u539f\u767a\u6027\u514d\u75ab\u4e0d\u5168\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Bare Lymphocyte Syndrome (CIITA-related), CIITA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CIITA&#038;keywords=CIITA\">CIITA<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-immunodeficiency-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4522\">Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RLBP1&#038;keywords=RLBP1\">RLBP1<\/a><\/td>\n            <td><a href=\"\">15q26.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinal-dystrophy-rlbp1-related-bothnia-retinal-dystrophy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u8907\u5408\u578b\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c71\u578b<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=201202267255981122\">\u201cCombined Oxidative Phosphorylation Deficiency 1, GFM1\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GFM1&#038;keywords=GFM1\">GFM1<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondria\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u578b\u5148\u5929\u6027\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/02_01_001\/\">Congenital Finnish Nephrosis, NPHS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NPHS1&#038;keywords=NPHS1\">NPHS1<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/finnish-congenital-nephrotic-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7-25<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/UR-DBMS\/SyndromeDetail.php?recid=4091&#038;winid=1\">Retinitis Pigmentosa 25 (EYS-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=EYS&#038;keywords=EYS\">EYS<\/a><\/td>\n            <td><a href=\"\">6q12<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-25-eys-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3997\">\u201cCongenital Myasthenic Syndrome (RAPSN-related), RAPSN\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RAPSN&#038;keywords=RAPSN\">RAPSN<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7-59<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\">Retinitis Pigmentosa 59 (DHDDS-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DHDDS&#038;keywords=DHDDS\">DHDDS<\/a><\/td>\n            <td><a href=\"\">1p36.11<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-59-dhdds-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u89d2\u819c\u5185\u76ae\u6027\u7570\u6804\u990a\u75c7<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=201002228375236137\">Corneal Dystrophy and Perceptive Deafness, SLC4A11<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC4A11&#038;keywords=SLC4A11\">SLC4A11<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/corneal-endothelial-cell-atrophy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b5\u30f3\u30d5\u30a3\u30ea\u30dd\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.jrps.org\/aiyakai\/local\/back\/2008spring\/07.html\">Sanfilippo Syndrome, Type D [Mucopolysaccharidosis IIID]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GNS&#038;keywords=GNS\">GNS<\/a><\/td>\n            <td><a href=\"\">12q14.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sanfilippo-syndrome-type-d-mucopolysaccharidosis-iiid\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u8133\u30af\u30ec\u30a2\u30c1\u30f3\u6b20\u4e4f\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/22426\">Creatine Transporter Defect [Cerebral Creatine Deficiency Syndrome 1] X-Linked, SLC6A8<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC6A8&#038;keywords=SLC6A8\">SLC6A8<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cerebral-creatine-deficiency-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u91cd\u75c7\u8907\u5408\u514d\u75ab\u4e0d\u5168\u75c7\uff08\u30a2\u30b5\u30d0\u30b9\u30ab\u578b\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Severe Combined Immunodeficiency, Type Athabaskan<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DCLRE1C&#038;keywords=DCLRE1C\">DCLRE1C<\/a><\/td>\n            <td><a href=\"\">10p13<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/severe-combined-immunodeficiency-type-athabaskan\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b7\u30b9\u30c1\u30ce\u30fc\u30b7\u30b9\uff08\u30b7\u30b9\u30c1\u30f3\u75c7\uff09<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/ctns.htm\">Cystinosis, CTNS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CTNS&#038;keywords=CTNS\">CTNS<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cystinosis\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>SLC35A3\u5909\u7570\u306b\u3088\u308b\u95a2\u7bc0\u62d8\u7e2e\u3001\u7cbe\u795e\u9045\u6ede\u3001\u304a\u3088\u3073\u767a\u4f5c<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/professional\/19-%E5%B0%8F%E5%85%90%E7%A7%91\/%E9%A0%AD%E8%93%8B%E9%A1%94%E9%9D%A2%E9%83%A8%E3%81%8A%E3%82%88%E3%81%B3%E7%AD%8B%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%AE%E5%85%88%E5%A4%A9%E7%95%B0%E5%B8%B8\/%E5%85%88%E5%A4%A9%E6%80%A7%E5%A4%9A%E7%99%BA%E6%80%A7%E9%96%A2%E7%AF%80%E6%8B%98%E7%B8%AE%E7%97%87?ruleredirectid=465\">Arthrogryposis Mental Retardation Seizures<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC35A3&#038;keywords=SLC35A3\">SLC35A3<\/a><\/td>\n            <td><a href=\"\">1p21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/arthrogryposis-mental-retardation-seizures\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4522\">Duchenne Muscular Dystrophy, X-linked, DMD l<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DMD&#038;keywords=DMD\">DMD<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/duchenne-muscular-dystrophy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>Emery-Dreifuss \u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_20_046\/\">Emery-Dreifuss Muscular Dystrophy 1, X-Linked, EMD<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=EMD&#038;keywords=EMD\">EMD<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-of-emery-dreifuss-type\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/asparagine-synthetase-deficiency\/\">Asparagine Synthetase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ASNS&#038;keywords=ASNS\">ASNS<\/a><\/td>\n            <td><a href=\"\">7q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/asparagine-synthetase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u3001X\u9023\u9396\u6027<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Fabry Disease, X-Linked, GLA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GLA&#038;keywords=GLA\">GLA<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fabry-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Aspartylglycosaminuria<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AGA&#038;keywords=AGA\">AGA<\/a><\/td>\n            <td><a href=\"\">4q34.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aspartylglycosaminuria\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5bb6\u65cf\u6027\u5730\u4e2d\u6d77\u71b1<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4448\">Familial Mediterranean Fever, MEFV<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MEFV&#038;keywords=MEFV\">MEFV<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-mediterranean-fever\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u591a\u767a\u6027\u56a2\u80de\u814e<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/295\">Autosomal Recessive Polycystic Kidney Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PKHD1&#038;keywords=PKHD1\">PKHD1<\/a><\/td>\n            <td><a href=\"\">6p12.3-p12.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-polycystic-kidney-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ac\u30e9\u30af\u30c8\u30fc\u30b9-1-\u30ea\u30f3\u9178\u30a6\u30ea\u30b8\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4829\">Galactosemia, GALT u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GALT&#038;keywords=GALT\">GALT<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/galactose-1-phosphate-uridyltransferase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4(BBS1\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/858\">Bardet-Biedl Syndrome (BBS1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BBS1&#038;keywords=BBS1\">BBS1<\/a><\/td>\n            <td><a href=\"\">11q13.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-bbs1-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u907a\u4f1d\u6027\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9<\/td>\n            <td><a href=\"https:\/\/minerva-clinic.or.jp\/genetictesting\/gene-list\/t\/tfr2\/\">Hemochromatosis, Type 3 (TFR2-related), TFR2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TFR2&#038;keywords=TFR2\">TFR2<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hereditary-haemochromatosis\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d5\u30a1\u30f3\u30b3\u30cb\u8ca7\u8840C\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4442\">Fanconi Anemia, Type C<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=FANCC&#038;keywords=FANCC\">FANCC<\/a><\/td>\n            <td><a href=\"\">9q22.32<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-type-c\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d8\u30eb\u30de\u30f3\u30b9\u30ad\u30fc-\u30d1\u30c9\u30e9\u30c3\u30af\u75c7\u5019\u7fa4(HPS3\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4493\">Hermansky-Pudlak Syndrome (HPS3-related), HPS3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HPS3&#038;keywords=HPS3\">HPS3<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/eyelid-leucoderma\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d5\u30a1\u30f3\u30b3\u30cb\u8ca7\u8840G\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4441\">Fanconi Anemia, Type G<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=FANCG&#038;keywords=FANCG\">FANCG<\/a><\/td>\n            <td><a href=\"\">9p13.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-type-g\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7<\/td>\n            <td><a href=\"https:\/\/mgen.jihs.go.jp\/disease\/83#:~:text=%E4%BD%8E%E3%83%9B%E3%82%B9%E3%83%95%E3%82%A1%E3%82%BF%E3%83%BC%E3%82%BC%E7%97%87%20(Hypophosphatasia%3A%20HP,%E3%82%92%E5%91%88%E3%81%99%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%A7%E3%81%82%E3%82%8B%E3%80%82\">Hypophosphatasia (ALPL-related), ALPL<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALPL&#038;keywords=ALPL\">ALPL<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypophosphatasia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30db\u30b9\u30db\u30b0\u30ea\u30bb\u30ea\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/ur-dbms\/SyndromeDetail.php?recid=3970&#038;winid=1\">\u201c3-Phosphoglycerate Dehydrogenase Deficiency, PHGDH\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PHGDH&#038;keywords=PHGDH\">PHGDH<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-phosphoglycerate-dehydrogenase-deficiency-phgdh\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b4\u30fc\u30b7\u30a7\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Gaucher Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GBA1\">GBA<\/a><\/td>\n            <td><a href=\"\">1q21<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gaucher-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b0\u30eb\u30bf\u30eb\u9178\u8840\u75c7\u2161A\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4820\">Glutaric Acidemia, Type 2A<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ETFA&#038;keywords=ETFA\">ETFA<\/a><\/td>\n            <td><a href=\"\">15q24.2-q24.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glutaric-acidemia-type-2a\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u975e\u30b1\u30c8\u30fc\u30b7\u30b9\u578b\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7(\u30b0\u30ea\u30b7\u30f3\u8133\u75c7)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5441\">Glycine Encephalopathy (GLDC-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GLDC&#038;keywords=GLDC\">GLDC<\/a><\/td>\n            <td><a href=\"\">9p24.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycine-encephalopathy-gldc-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u767d\u8cea\u6d88\u5931\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5417\">Leukoencephalopathy with Vanishing White Matter<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=EIF2B5&#038;keywords=EIF2B5\">EIF2B5<\/a><\/td>\n            <td><a href=\"\">3q27.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leukoencephalopathy-with-vanishing-white-matter\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/alpha-thalassemia\/\">Alpha-Thalassemia (HBA1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HBA1&#038;keywords=HBA1\">HBA1<\/a><\/td>\n            <td><a href=\"\">16p13.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alpha-thalassemia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/alpha-thalassemia\/\">Alpha-Thalassemia (HBA2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HBA2&#038;keywords=HBA2\">HBA2<\/a><\/td>\n            <td><a href=\"\">16p13.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alpha-thalassemia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u8907\u5408\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/holocarboxylase-synthetase-deficiency\/\">Holocarboxylase Synthetase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HLCS&#038;keywords=HLCS\">HLCS<\/a><\/td>\n            <td><a href=\"\">21q22.13<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-methylcrotonyl-coa-carboxylase-deficiency-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ab\u30eb\u30cb\u30c1\u30f3\u30d1\u30eb\u30df\u30c8\u30a4\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bcIA\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/carnitine-palmitoyltransferase-i-deficiency\/\">Carnitine Palmitoyltransferase 1A Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CPT1A&#038;keywords=CPT1A\">CPT1A<\/a><\/td>\n            <td><a href=\"\">11q13.3<\/a><\/td>\n            <td>\u2015<\/td>\n        <\/tr>\n<tr>\n            <td>\u8edf\u9aa8\u7121\u767a\u751f\u75c7 IB\u578b<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/achondrogenesis\/\">Achondrogenesis, Type 1B<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC26A2&#038;keywords=SLC26A2\">SLC26A2<\/a><\/td>\n            <td><a href=\"\">5q32<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/achondrogenesis-type-1b-slc26a2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n<\/table>\n\n    <table class=\"disease_list\">\n<tr>\n<th>Disease Name (JP)<\/th>\n<th>Disease Name (EN)<\/th>\n<th>Genes Tested at Our Clinic<\/th>\n<th>Detailed Information<\/th>\n<\/tr>\n<tr>\n            <td>\u81ea\u5df1\u514d\u75ab\u6027\u591a\u5185\u5206\u6ccc\u817a\u75c7\u5019\u7fa4 1\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/05_16_029\/\">Autoimmune Polyglandular Syndrome, Type 1, AIRE<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AIRE&#038;keywords=AIRE\">AIRE<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autoimmune-polyendocrine-gland-syndrome-type1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4(BSND\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/6016\">Bartter Syndrome (BSND-related), BSND<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BSND&#038;keywords=BSND\">BSND<\/a><\/td>\n            <td>\u2015<\/td>\n        <\/tr>\n<tr>\n            <td>\u95a2\u9023\u8907\u5408\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4018\">Pituitary Hormone Deficiency, Combined 3, LHX3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LHX3&#038;keywords=LHX3\">LHX3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pituitary-hormone-deficiency-combined-3-lhx3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5<\/td>\n            <td><a href=\"https:\/\/www.jstage.jst.go.jp\/article\/jjsps\/14\/3\/14_KJ00003304927\/_article\/-char\/ja\/\">Cartilage-Hair Hypoplasia, RMRP<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RMRP&#038;keywords=RMRP\">RMRP<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hirschsprungs-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d2\u30c8\u30a2\u30eb\u30ae\u30cb\u30ce\u30b9\u30af\u30b7\u30cd\u30fc\u30c8\u30b7\u30f3\u30c6\u30bf\u30fc\u30bc<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=201702259224031034\">Citrullinemia, Type 1, ASS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ASS1&#038;keywords=ASS1\">ASS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/citrullinemia-type-1-ass1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u539f\u767a\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_035\/\">Primary Hyperoxaluria, Type 2, GRHPR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GRHPR&#038;keywords=GRHPR\">GRHPR<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-hyperoxaluria-type-2-grhpr\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7570\u5e38\u75c7<\/td>\n            <td><a href=\"https:\/\/www.wch.opho.jp\/data\/media\/opho\/page\/hospital\/medical\/cdg_diagnosis\/cdg2.pdf\">Congenital Disorder of Glycosylation, Type 1B, MPI<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MPI&#038;keywords=MPI\">MPI<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-dysglycosylation\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5148\u5929\u6027\u7121\u75db\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2351\">\u201cCongenital Insensitivity to Pain with Anhidrosis, NTRK1\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NTRK1&#038;keywords=NTRK1\">NTRK1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-painlessness\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/05_23_047\/\">Corticosterone Methyloxidase Deficiency, CYP11B2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CYP11B2&#038;keywords=CYP11B2\">CYP11B2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aldosterone-synthase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7 26<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\">Retinitis Pigmentosa 26, CERKL<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CERKL&#038;keywords=CERKL\">CERKL<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-26\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>D-\u4e8c\u982d\u9175\u7d20(DBP)\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/minerva-clinic.or.jp\/genetictesting\/gene-list\/h\/hsd17b4\/\">D-Bifunctional Protein Deficiency, HSD17B4<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HSD17B4&#038;keywords=HSD17B4\">HSD17B4<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/d-biparasitic-enzyme-dbp-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>1\u578b\u7a7f\u5b54\u6027\u8edf\u9aa8\u7570\u5f62\u6210\u75c7\uff08Rhizomelic Chondrodysplasia Punctata\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4571\">Rhizomelic Chondrodysplasia Punctata, Type 1, PEX7<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX7&#038;keywords=PEX7\">PEX7<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/rhizomelic-chondrodysplasia-punctata-type-1-pex7\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u8868\u76ae\u6c34\u75b1\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5339\">\u201cDystrophic Epidermolysis Bullosa (COL7A1-related), COL7A1\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=COL7A1&#038;keywords=COL7A1\">COL7A1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/epidermal-herpetiformis\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b5\u30e9\u30fc\u75c5<\/td>\n            <td><a href=\"https:\/\/plaza.umin.ac.jp\/~pmd\/guideline10.html\">Salla Disease, SLC17A5<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC17A5&#038;keywords=SLC17A5\">SLC17A5<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/salla-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u702c\u5ddd\u75c7\u5019\u7fa4\u3001\uff08TH\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/562\">Segawa Syndrome, (TH-related), TH<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TH&#038;keywords=TH\">TH<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/segawa-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5909\u7570\u95a2\u9023\u7db2\u819c\u5909\u6027\u75c7<\/td>\n            <td><a href=\"https:\/\/www.gii.co.jp\/report\/del1050813-nr2e3-mutation-associated-retinal-degeneration.html\">Enhanced S-Cone Syndrome, NR2E3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NR2E3&#038;keywords=NR2E3\">NR2E3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mutation-associated-retinal-degeneration\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7b2cIX\u56e0\u5b50\u6b20\u4e4f\u75c7\u3001X\u9023\u9396\u6027<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4649\">Factor IX Deficiency, X-Linked, F9<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=F9&#038;keywords=F9\">F9<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/factor-ix-deficiency-x-linked\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30c6\u30a4\u30b5\u30c3\u30af\u30b9\u75c5\u3001HEXA u<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=200902180641734411\">Tay-Sachs Disease, HEXA u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HEXA%E9%81%BA%E4%BC%9D%E5%AD%90&#038;keywords=HEXA%E9%81%BA%E4%BC%9D%E5%AD%90\">HEXA\u907a\u4f1d\u5b50<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tay-sachs-disease-hexa-u\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5148\u5929\u6027\u814e\u6027\u5c3f\u5d29\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5537\">Familial Nephrogenic Diabetes Insipidus (AQP2- related), AQP2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AQP2&#038;keywords=AQP2\">AQP2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-renal-urinary-stones\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4544#:~:text=%EF%BC%91%EF%BC%8E%E6%A6%82%E8%A6%81%E3%82%A6%E3%82%A3%E3%83%AB%E3%82%BD%E3%83%B3%E7%97%85%E3%81%AF,%E9%9A%9C%E5%AE%B3%E3%82%92%E6%9D%A5%E3%81%97%E3%81%86%E3%82%8B%E3%80%82\">Wilson Disease, ATP7B<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ATP7B&#038;keywords=ATP7B\">ATP7B<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/wilson-disease-atp7b\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7b4b\u578b\u7cd6\u539f\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4712\">Glycogen Storage Disease, Type 4, GBE1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GBE1&#038;keywords=GBE1\">GBE1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fascial-glycogenosis\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>PTPS\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/med.m-review.co.jp\/article\/detail\/J0014_1901_0165-0167\">6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency, PTS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PTS&#038;keywords=PTS\">PTS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/genetic-diseases2\/ptps\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\uff08CNGB3\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/nipt\/autosomal-recessive-inheritance\/\">Achromatopsia (CNGB3-related), CNGB3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CNGB3&#038;keywords=CNGB3\">CNGB3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/achromatopsia-cnbg3-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_07_104\/#:~:text=%E5%89%AF%E8%85%8E%E7%99%BD%E8%B3%AA%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC(adrenoleukodystrophy%3B%20ALD,(AMN)%E3%80%81%E6%88%90%E4%BA%BA%E3%81%A7%E6%80%A7%E6%A0%BC\">Adrenoleukodystrophy, X-Linked, ABCD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ABCD1&#038;keywords=ABCD1\">ABCD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/adrenoleukodystrophy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>2A\u578b \u56db\u80a2\u5e2f\u72b6\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4523\">Limb-Girdle Muscular Dystrophy, Type 2A, CAPN3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CAPN3&#038;keywords=CAPN3\">CAPN3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2a-capn3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4348\">Alport Syndrome (COL4A3-related), COL4A3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=COL4A3&#038;keywords=COL4A3\">COL4A3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alport-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30012\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4523\">Limb-Girdle Muscular Dystrophy, Type 2D, SGCA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SGCA&#038;keywords=SGCA\">SGCA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2d-sgca\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d3\u30bf\u30df\u30f3E\u6b20\u4e4f\u75c7\u306b\u4f34\u3046\u904b\u52d5\u5931\u8abf\u75c7<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/ur-dbms\/SyndromeDetail.php?recid=3175&#038;winid=1\">Ataxia with Vitamin E Deficiency, TTPA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TTPA&#038;keywords=TTPA\">TTPA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ataxia-associated-with-vitamin-e-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ea\u30dd\u30a4\u30c9\u526f\u814e\u904e\u5f62\u6210\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/1530\">Lipoid Adrenal Hyperplasia, STAR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=STAR&#038;keywords=STAR\">STAR<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoid-adrenal-hyperplasia-star\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d0\u30c3\u30c6\u30f3\u75c5\uff08CLN3\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/medical-plus.bmrn.co.jp\/area\/ncl\/\">Batten Disease (CLN3-related), CLN3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLN3&#038;keywords=CLN3\">CLN3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/batten-disease-cln3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u4e2d\u9396\u30a2\u30b7\u30eb-CoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_03_045\/\">\u201cMedium Chain Acyl-CoA Dehydrogenase Deficiency, ACADM u\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ACADM&#038;keywords=ACADM\">ACADM u<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/medium-chain-acyl-coa-dehydrogenase-deficiency-acadm\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d6\u30eb\u30fc\u30e0\uff08Bloom\uff09\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/10_02_014\/\">Bloom Syndrome, BLM u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BLM&#038;keywords=BLM\">BLM<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bloom-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u30fb\u30ed\u30a4\u30b3\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08PSAP\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_088\/\">Metachromatic Leukodystrophy (PSAP-related) PSAP<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PSAP&#038;keywords=PSAP\">PSAP<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/metachromatic-leukodystrophy-psap-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ab\u30eb\u30cb\u30c1\u30f3\u30d1\u30eb\u30df\u30c8\u30a4\u30eb\u57fa\u8ee2\u79fb\u9175II\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_03_042\/\">Carnitine Palmitoyltransferase II Deficiency, CPT2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CPT2&#038;keywords=CPT2\">CPT2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carnitine-palmitoyltransferase-2-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u5c3f\u75c7\u30fb\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7 cblC\u578b<\/td>\n            <td><a href=\"https:\/\/myriad-com.translate.goog\/womens-health\/diseases\/methylmalonic-aciduria-and-homocystinuria-cblc-type\/?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">Methylmalonic Aciduria and Homocystinuria, Type cblC, MMACHC<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMACHC&#038;keywords=MMACHC\">MMACHC<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-and-homocystinuria-type-cblc-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u8133\u8171\u9ec4\u8272\u816b\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4619\">Cerebrotendinous Xanthomatosis, CYP27A1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CYP27A1&#038;keywords=CYP27A1\">CYP27A1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pure-yellow-tumour-of-the-tendon\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5c0f\u773c\u7403\u75c7\uff0f\u7121\u773c\u7403\u75c7\uff08VSX2\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/747\">Microphthalmia\/Anophthalmia (VSX2-related), VSX2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VSX2&#038;keywords=VSX2\">VSX2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/microphthalmia-anophthalmia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u6162\u6027\u8089\u82bd\u816b\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Chronic Granulomatous Disease, X-Linked, CYBB<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CYBB&#038;keywords=CYBB\">CYBB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/chronic-granulomatous-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f531\u6b20\u640d\u75c7\uff08NDUFS6\u95a2\u9023\uff09,<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_04_054\/\">Mitochondrial Complex 1 Deficiency (NDUFS6-related), NDUFS6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NDUFS6&#038;keywords=NDUFS6\">NDUFS6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-ndufs6-related-ndufs6\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30de\u30ed\u30f3\u9178\u5c3f\u75c7\u3068\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5449\">Combined Malonic and Methylmalonic Aciduria, <\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ACSF3&#038;keywords=ACSF3\">ACSF3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/malonic-aciduria-and-methylmalonic-aciduria\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff08\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9 III\u578b\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Mucolipidosis III Gamma, GNPTG<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GNPTG&#038;keywords=GNPTG\">GNPTG<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-iii-gamma-gnptg\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e0\u30b3\u591a\u7cd6\u75c7IIIB\u578b\uff3bSanfilippo B\uff3d\u3001<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4063\">\u201cMucopolysaccharidosis, Type IIIB [Sanfilippo B], NAGLU\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NAGLU&#038;keywords=NAGLU\">NAGLU<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-iiib-sanfilippo-b-naglu\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>PROP1\u95a2\u9023\u8907\u5408\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/PROP1.htm\">Combined Pituitary Hormone Deficiency 2, PROP1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PROP1&#038;keywords=PROP1\">PROP1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/prop1-related-combined-pituitary-hormone-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff08\u30e0\u30b3\u591a\u7cd6\u75c7IX\u578b\u3001\u30d2\u30a2\u30eb\u30ed\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\uff09<\/td>\n            <td><a href=\"https:\/\/www-omim-org.translate.goog\/entry\/601492?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">Mucopolysaccharidosis, Type IX, HYAL1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HYAL1&#038;keywords=HYAL1\">HYAL1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-ix-hyal1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5148\u5929\u6027N-\u7d50\u5408\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7d4c\u8def\u7570\u5e38\u75c7<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/n_cdg.htm\">Congenital Disorder of Glycosylation Type 1C, ALG6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALG6&#038;keywords=ALG6\">ALG6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-n-linked-glycosylation-pathway-disorders\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_101\/\">Neuronal Ceroid Lipofuscinosis (CLN6-related), CLN6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLN6&#038;keywords=CLN6\">CLN6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln6-related-cln6\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3963\">\u201cCongenital Myasthenic Syndrome (CHRNE-related), CHRNE\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CHRNE&#038;keywords=CHRNE\">CHRNE<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u9178\u6027\u30b9\u30d5\u30a3\u30f3\u30b4\u30df\u30a8\u30ea\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/asmd.htm\">Niemann-Pick Disease, Types A\/B, SMPD1 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SMPD1&#038;keywords=SMPD1\">SMPD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-types-a-b-smpd1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2310\">Congenital Neutropenia (VPS45-related), VPS45<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VPS45&#038;keywords=VPS45\">VPS45<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-hypospadias\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/335\">Pontocerebellar Hypoplasia, RARS2-related, RARS2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RARS2&#038;keywords=RARS2\">RARS2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-rars2-related-rars2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>CRB1\u95a2\u9023\u306e\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4798\">CRB1-related Retinal Dystrophies, CRB1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CRB1&#038;keywords=CRB1\">CRB1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/crb1-related-retinal-dystrophy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/03_05_007\/\">Primary Ciliary Dyskinesia, DNAI2-related, DNAI2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DNAI2&#038;keywords=DNAI2\">DNAI2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnai2-related-dnai2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u96e3\u8074\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u602777<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/nipt\/autosomal-recessive-inheritance\/\">Deafness, Autosomal Recessive 77, LOXHD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LOXHD1&#038;keywords=LOXHD1\">LOXHD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/deafness-autosomal-recessive-77\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d4\u30eb\u30d3\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_04_050\/\">Pyruvate Dehydrogenase Deficiency, X-Linked, PDHA1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PDHA1&#038;keywords=PDHA1\">PDHA1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-x-linked-pdha1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7<\/td>\n            <td><a href=\"https:\/\/nanbyodata.jp\/disease\/NANDO:1200431\">Retinitis Pigmentosa 28, FAM161A<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=FAM161A&#038;keywords=FAM161A\">FAM161A<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-28-fam161a\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a8\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8133\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4860\">Ethylmalonic Encephalopathy, ETHE1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ETHE1&#038;keywords=ETHE1\">ETHE1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ethylmalonic-acid-encephalopathy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u80a2\u6839\u578b\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u75c7III\u578b (RCDP3)<\/td>\n            <td><a href=\"https:\/\/minerva-clinic.or.jp\/genetictesting\/gene-list\/a\/agps\/\">Rhizomelic Chondrodysplasia Punctata, Type 3, AGPS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AGPS&#038;keywords=AGPS\">AGPS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/rhizomelic-chondrodysplasia-punctata-type-3-agps\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7b2cV\u56e0\u5b50\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/jsth.medical-words.jp\/?post_type=words&#038;p=281\">Factor V Leiden Thrombophilia, F5<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=F5&#038;keywords=F5\">F5<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/factor-v-leiden-thrombophilia-f5\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b5\u30f3\u30c9\u30db\u30d5\u75c5<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%9B%E3%83%BC%E3%83%A0\/23-%E5%B0%8F%E5%85%90%E3%81%AE%E5%81%A5%E5%BA%B7%E4%B8%8A%E3%81%AE%E5%95%8F%E9%A1%8C\/%E9%81%BA%E4%BC%9D%E6%80%A7%E4%BB%A3%E8%AC%9D%E7%96%BE%E6%82%A3\/%E3%83%86%E3%82%A4-%E3%82%B5%E3%83%83%E3%82%AF%E3%82%B9%E7%97%85%E3%81%8A%E3%82%88%E3%81%B3%E3%82%B5%E3%83%B3%E3%83%89%E3%83%9B%E3%83%95%E7%97%85\">Sandhoff Disease, HEXB<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HEXB&#038;keywords=HEXB\">HEXB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sandhoff-disease-hexb\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u5bb6\u65cf\u6027\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/65\">Familial Hypercholesterolemia (LDLR-related), LDLR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LDLR&#038;keywords=LDLR\">LDLR<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-hypercholesterolemia-ldlr-related-ldlr\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u9ad8\u30c1\u30ed\u30b7\u30f3\u8840\u75c7\uff11\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4691\">Tyrosinemia, Type 1, FAH<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=FAH&#038;keywords=FAH\">FAH<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tyrosinemia-type-1-fah\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ac\u30e9\u30af\u30c8\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4829\">\u201cGalactokinase Deficiency [Galactosemia, Type II], GALK1\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GALK1&#038;keywords=GALK1\">GALK1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/galactokinase-deficiency-galactosemia-type-ii-galk1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4625\">Usher Syndrome, Type 2A, USH2A<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=USH2A&#038;keywords=USH2A\">USH2A<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-2a-ush2a\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b0\u30eb\u30bf\u30eb\u9178\u8840\u75c7\uff11\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4831\">Glutaric Acidemia, Type 1, GCDH<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GCDH&#038;keywords=GCDH\">GCDH<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glutaric-acidemia-type-1-gcdh\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7db2\u819c\u5206\u96e2\u75c7<\/td>\n            <td><a href=\"https:\/\/minerva-clinic.or.jp\/genetictesting\/gene-list\/r\/rs1\/\">Juvenile Retinoschisis, X-Linked, RS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RS1&#038;keywords=RS1\">RS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/juvenile-retinoschisis-x-linked-rs1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u975e\u30b1\u30c8\u30fc\u30b7\u30b9\u578b\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5440\">Glycine Encephalopathy (AMT-related), AMT<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AMT&#038;keywords=AMT\">AMT<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycine-encephalopathy-amt-related-amt\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4524\">Limb-Girdle Muscular Dystrophy, Type 2B, DYSF<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DYSF&#038;keywords=DYSF\">DYSF<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2b-dysf\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7cd6\u539f\u75c5II\u578b\uff08\u30dd\u30f3\u307a\u75c5\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4712\">\u201cGlycogen Storage Disease, Type 2 [Pompe Disease], GAA\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GAA&#038;keywords=GAA\">GAA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-2-pompe-disease-gaa\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u76ae\u8cea\u4e0b\u56a2\u80de\u3092\u4f34\u3046\u5de8\u982d\u6027\u767d\u8cea\u8133\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/search\/group\">Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MLC1&#038;keywords=MLC1\">MLC1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/megalencephalic-leukoencephalopathy-with-subcortical-cysts-mlc1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7cd6\u539f\u75c5V\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4711\">\u201cGlycogen Storage Disease, Type 5 [McArdle Disease], PYGM\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PYGM&#038;keywords=PYGM\">PYGM<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-5-mcardle-disease-pygm\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f531\u6b20\u640d\u75c7\uff08ACAD9\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/335\">Mitochondrial Complex 1 Deficiency (ACAD9-related), ACAD9<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ACAD9&#038;keywords=ACAD9\">ACAD9<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-acad9-related-acad9\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u9244\u82bd\u7403\u6027\u8ca7\u8840\uff08MLASA1\uff09\u3001PUS1<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/335\">Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1), PUS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PUS1&#038;keywords=PUS1\">PUS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-myopathy-and-sideroblastic-anemia-mlasa1-pus1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30d8\u30eb\u30de\u30f3\u30b9\u30ad\u30fc\u30fb\u30d1\u30c9\u30e9\u30c3\u30af\u75c7\u5019\u7fa41<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/hps.htm\">Hermansky-Pudlak Syndrome (HPS1-related), HPS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HPS1&#038;keywords=HPS1\">HPS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hermansky-pudlak-syndrome-hps1-related-hps1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\uff08IV\u578b\uff09<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/ml4.htm\">Mucolipidosis, Type IV, MCOLN1 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MCOLN1&#038;keywords=MCOLN1\">MCOLN1 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-type-iv-mcoln1-u\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_01_008\/#:~:text=%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%81%E3%83%B3%E5%B0%BF%E7%97%87%E3%81%AF%E3%83%A1%E3%83%81%E3%82%AA%E3%83%8B%E3%83%B3,%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AA%E3%81%A3%E3%81%A6%E3%81%84%E3%82%8B%E3%80%82\">Homocystinuria (CBS-related), CBS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CBS&#038;keywords=CBS\">CBS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/homocystinuria-cbs-related-cbs\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>N-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u30b7\u30f3\u30bf\u30fc\u30bc\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_01_011\/\">N-acetylglutamate Synthase Deficiency, NAGS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NAGS&#038;keywords=NAGS\">NAGS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/n-acetylglutamate-synthase-deficiency-nags\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7121\u6c57\u6027\u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/html\/detail\/14_08_013.html\">Hypohidrotic Ectodermal Dysplasia, X-Linked, EDA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=EDA&#038;keywords=EDA\">EDA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypohidrotic-ectodermal-dysplasia-x-linked-eda\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5 C1\/D\u578b<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%9B%E3%83%BC%E3%83%A0\/23-%E5%B0%8F%E5%85%90%E3%81%AE%E5%81%A5%E5%BA%B7%E4%B8%8A%E3%81%AE%E5%95%8F%E9%A1%8C\/%E9%81%BA%E4%BC%9D%E6%80%A7%E4%BB%A3%E8%AC%9D%E7%96%BE%E6%82%A3\/%E3%83%8B%E3%83%BC%E3%83%9E%E3%83%B3-%E3%83%94%E3%83%83%E3%82%AF%E7%97%85\">Niemann-Pick Disease, Type C1\/D, NPC1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=%20NPC1&#038;keywords=%20NPC1\">NPC1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-type-c1-d-npc1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30af\u30e9\u30c3\u30d9\u75c5<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_092\/\">Krabbe Disease, GALC<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GALC&#038;keywords=GALC\">GALC<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/krabbe-disease-galc\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u975e\u30b7\u30f3\u30c9\u30ed\u30fc\u30e0\u6027\u96e3\u8074\uff08GJB2\u95a2\u9023\u3001GJB6\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/nipt\/autosomal-recessive-inheritance\/\">Non-Syndromic Hearing Loss (GJB2-related, GJB6-related), GJB2, GJB6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GJB2&#038;keywords=GJB2\">GJB2\u3001GJB6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/deafness-and-hereditary-hearing-loss-overview\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4660\">Leber Congenital Amaurosis, Type CEP290, CEP290<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CEP290&#038;keywords=CEP290\">CEP290<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-type-cep290\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4522\">Limb-Girdle Muscular Dystrophy, Type 2C, SGCG<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SGCG&#038;keywords=SGCG\">SGCG<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2c-sgcg\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u539f\u767a\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c7\u2160\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_035\/\">Primary Hyperoxaluria, Type 1, AGXT<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AGXT&#038;keywords=AGXT\">AGXT<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-hyperoxaluria-type-1-agxt\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u95a2\u9023\u75be\u60a3<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4552\">Meckel-Gruber Syndrome, Type 1, MKS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MKS1&#038;keywords=MKS1\">MKS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/meckel-gruber-syndrome-type-1-mks1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>X\u9023\u9396\u6027\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\">Retinitis Pigmentosa, X-linked, RPGR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RPGR&#038;keywords=RPGR\">RPGR<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-x-linked-rpgr\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_088\/#:~:text=%E7%95%B0%E6%9F%93%E6%80%A7%E7%99%BD%E8%B3%AA%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%E3%81%AF%E3%80%81%E3%82%A2%E3%83%AA%E3%83%AB%E3%82%B9%E3%83%AB%E3%83%95%E3%82%A1%E3%82%BF%E3%83%BC%E3%82%BCA%E3%81%AE,%E5%9E%8B%E3%81%AB%E5%88%86%E9%A1%9E%E3%81%95%E3%82%8C%E3%82%8B%E3%80%82\">Metachromatic Leukodystrophy (ARSA-related), ARSA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ARSA&#038;keywords=ARSA\">ARSA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/metachromatic-leukodystrophy-arsa-related-arsa\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.jsum.or.jp\/\">Roberts Syndrome, ESCO2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ESCO2&#038;keywords=ESCO2\">ESCO2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/roberts-syndrome-esco2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Aciduria (MMAB-related), MMAB<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMAB&#038;keywords=MMAB\">MMAB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-mmab-related-mmab\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b7\u30e0\u30b1\u514d\u75ab\u6027\u9aa8\u5f62\u6210\u4e0d\u5168<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/old\/schimke.htm\">Schimke Immunoosseous Dysplasia, SMARCAL1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SMARCAL1&#038;keywords=SMARCAL1\">SMARCAL1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/schimke-immunoosseous-dysplasia-smarcal1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7MUT0\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Aciduria, Type mut(0), MMUT<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMUT&#038;keywords=MMUT\">MMUT<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-type-mut0-mmut\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3001DHCR7 u<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/html\/detail\/13_01_028.html\">Smith-Lemli-Opitz Syndrome, DHCR7 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DHCR7&#038;keywords=DHCR7\">DHCR7 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/smith-lemli-opitz-syndrome-dhcr7\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53 I \u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/medlineplus-gov.translate.goog\/genetics\/condition\/mitochondrial-complex-i-deficiency\/?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">Mitochondrial Complex 1 Deficiency (NDUFAF5- related), NDUFAF5<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NDUFAF5&#038;keywords=NDUFAF5\">NDUFAF5<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-ndufaf5-related-ndufaf5\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\u2162\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Mucolipidosis II\/III, GNPTAB<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GNPTAB&#038;keywords=GNPTAB\">GNPTAB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-ii-iii-gnptab\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\uff081C\u578b\uff09USH1C<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/ur-dbms\/SyndromeDetail.php?recid=3158&#038;winid=1\">Usher Syndrome, Type 1C, USH1C<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=USH1C&#038;keywords=USH1C\">USH1C<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-1c-ush1c\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u795e\u7d4c\u80c3\u8178\u8133\u75c7\u75be\u60a3<\/td>\n            <td><a href=\"https:\/\/medlineplus-gov.translate.goog\/genetics\/condition\/mitochondrial-neurogastrointestinal-encephalopathy-disease\/?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">\u201cMyoneurogastrointestinal Encephalopathy (MNGIE), TYMP\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TYMP&#038;keywords=TYMP\">TYMP<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/myoneurogastrointestinal-encephalopathy-mngie-tymp\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u30fb\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001\uff08PEX6\u95a2\u9023\uff09\u3001PEX6<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/UR-DBMS\/SyndromeDetail.php?recid=8221&#038;winid=1\">Zellweger Spectrum Disorders, (PEX6-related), PEX6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX6&#038;keywords=PEX6\">PEX6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-spectrum-disorders-pex6-related-pex6\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u30fb\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08PEX10\u95a2\u9023\uff09\u3001PEX10<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/UR-DBMS\/SyndromeDetail.php?recid=8221&#038;winid=1\">Zellweger Spectrum Disorders (PEX10-related), PEX10<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX10&#038;keywords=PEX10\">PEX10<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-spectrum-disorders-pex10-related-pex10\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>CLN5 \u75be\u60a3<\/td>\n            <td><a href=\"https:\/\/medlineplus-gov.translate.goog\/genetics\/condition\/cln5-disease\/?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">Neuronal Ceroid Lipofuscinosis (CLN5-related), CLN5<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLN5&#038;keywords=CLN5\">CLN5<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln5-related-cln5\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7<\/td>\n            <td><a href=\"https:\/\/www.jstage.jst.go.jp\/article\/ojjscn\/53\/4\/53_251\/_pdf\/-char\/ja\">Neuronal Ceroid Lipofuscinosis (PPT1-related), PPT1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PPT1&#038;keywords=PPT1\">PPT1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-ppt1-related-ppt1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5\u3001C2\u578b\u3001NPC2\u578b<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/UR-DBMS\/SyndromeDetail.php?recid=4621&#038;winid=1\">Niemann-Pick Disease, Type C2, NPC2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NPC2&#038;keywords=NPC2\">NPC2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-type-c2-npc2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30aa\u30c9\u30f3\u30c8\u30fb\u30aa\u30cb\u30fc\u30b3\u30fb\u76ae\u819a\u7570\u5f62\u6210\u75c7\u30fb\u201d\u30aa\u30c9\u30f3\u30c8\u30fb\u30aa\u30cb\u30fc\u30b3\u30fb\u76ae\u819a\u7570\u5f62\u6210\u75c7\u3001\u30b7\u30e7\u30d7\u30d5\u30fb\u30b7\u30e5\u30eb\u30c4\u30fb\u30d1\u30b5\u30fc\u30b8\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4456\">\u201cOdonto-Onycho-Dermal Dysplasia \/ Schopf-Schulz- Passarge Syndrome, WNT10A\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=WNT10A&#038;keywords=WNT10A\">WNT10A<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/odonto-onycho-dermal-dysplasia-schopf-schulz-passarge-syndrome-wnt10a\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<tr>\n            <td>\u30aa\u30eb\u30cb\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30ab\u30eb\u30d0\u30df\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/841\">Ornithine Transcarbamylase Deficiency, OTC<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=OTC&#038;keywords=OTC\">OTC<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-transcarbamylase-deficiency-otc\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n<\/table>\n<\/div>\n\n<style>\n.disease_list {\n    font-family: arial, sans-serif;\n    border-collapse: collapse;\n    width: 100%;\n    margin-bottom: 40px;\n}\n.disease_list td, .disease_list th {\n    border: 1px solid #dddddd;\n    text-align: left;\n    padding: 8px;\n    line-height: 1.2;\n}\n.disease_list tr:nth-child(even) {\n    background-color: rgba(242, 168, 195, 0.5);\n}\n\n\n@media screen and (max-width: 600px){\n    .disease_list td, .disease_list th {\n        width: 20%;\n    }\n}\n<\/style>\n\n\n\n<div class=\"section-separator\">\n<h2 class=\"wp-block-heading\">Conditions covered by Carrier Screening Test 1,200+ (1,232 conditions)<\/h2>\n<p><strong>The 1,200+ test performs exome analysis and then screens for the 1,232 conditions listed below.<\/strong> It costs <strong>330,000 yen (tax included)<\/strong>, results take <strong>5 to 7 weeks<\/strong>, and the analysis is carried out in Japan.<\/p>\n<p>Where a detail page exists, you can open it from the link on the right. Detail pages are being added, so some conditions do not yet have one.<\/p>\n<p style=\"font-size:0.9rem;color:#666;\">* The list scrolls within the box below.<\/p>\n<div class=\"disease_list_1200_wrap\">\n<table class=\"disease_list disease_list_1200\">\n<tr><th>Disease Name (EN)<\/th><th>Gene<\/th><th>Detailed Information<\/th><\/tr>\n<tr><td>Ichthyosis, congenital, autosomal recessive 4A<\/td><td>ABCA12<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ichthyosis-congenital-autosomal-recessive-4a-abca12\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ichthyosis, congenital, autosomal recessive 4B (Harlequin ichthyosis)<\/td><td>ABCA12<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cholestasis, progressive familial intrahepatic 2<\/td><td>ABCB11<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cholestasis-progressive-familial-intrahepatic-2-abcb11\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Cholestasis, progressive familial intrahepatic 3<\/td><td>ABCB4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cholestasis-progressive-familial-intrahepatic-3-abcb4\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Sitosterolemia 2<\/td><td>ABCG5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sitosterolemia-2-abcg5\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Sitosterolemia 1<\/td><td>ABCG8<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sitosterolemia-1-abcg8\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Acyl-CoA dehydrogenase, medium chain, deficiency<\/td><td>ACADM<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/medium-chain-acyl-coa-dehydrogenase-deficiency-acadm\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Acyl-CoA dehydrogenase, short-chain, deficiency<\/td><td>ACADS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/acyl-coa-dehydrogenase-short-chain-deficiency-acads\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>VLCAD deficiency<\/td><td>ACADVL<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/vlcad-deficiency-acadvl\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Alpha-methylacetoacetic aciduria<\/td><td>ACAT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alpha-methylacetoacetic-aciduria-acat1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Adenosine Deaminase Deficiency<\/td><td>ADA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/adenosine-deaminase-deficiency-ada\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 3<\/td><td>AHI1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-3-ahi1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Sjogren-Larsson syndrome<\/td><td>ALDH3A2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sjogren-larsson-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fructose intolerance, hereditary<\/td><td>ALDOB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hereditary-fructose-intolerance\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hypophosphatasia, childhood<\/td><td>ALPL<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypophosphatasia\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hypophosphatasia, infantile<\/td><td>ALPL<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypophosphatasia\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glycine encephalopathy 2<\/td><td>AMT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycine-encephalopathy-gldc-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Metachromatic leukodystrophy<\/td><td>ARSA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/metachromatic-leukodystrophy-arsa-related-arsa\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucopolysaccharidosis type VI (Maroteaux-Lamy)<\/td><td>ARSB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-vi-maroteaux-lamy-arsb\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Argininosuccinic aciduria<\/td><td>ASL<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/argininosuccinic-aciduria-asl\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Canavan Disease<\/td><td>ASPA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/canavan-disease\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Citrullinemia<\/td><td>ASS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/citrullinemia-type-1-ass1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Wilson Disease<\/td><td>ATP7B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/wilson-disease-atp7b\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Maple syrup urine disease, type Ia<\/td><td>BCKDHA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/maple-syrup-urine-disease-type-1b\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Maple syrup urine disease, type Ib<\/td><td>BCKDHB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/maple-syrup-urine-disease-type-1b\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Biotinidase Deficiency<\/td><td>BTD<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/biotinidase-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Albinism, oculocutaneous, type VII<\/td><td>LRMDA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Joubert Syndrome 17<\/td><td>CPLANE1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-17-cplane1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy, limb-girdle, autosomal recessive<\/td><td>CAPN3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2c-sgcg\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Homocystinuria, B6-responsive and nonresponsive<\/td><td>types CBS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/homocystinuria-cbs-related-cbs\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 9<\/td><td>CC2D2A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-9-cc2d2a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>COACH syndrome 2<\/td><td>CC2D2A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Joubert Syndrome 5<\/td><td>CEP290<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-type-cep290\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Meckel Syndrome 4<\/td><td>CEP290<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-type-cep290\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Cystic Fibrosis<\/td><td>CFTR<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cystic-fibrosis\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ceroid lipofuscinosis, neuronal, 3<\/td><td>CLN3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/batten-disease-cln3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ceroid lipofuscinosis, neuronal, 5<\/td><td>CLN5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln5-related-cln5\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ceroid lipofuscinosis, neuronal, 6B (Kufs type)<\/td><td>CLN6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln6-related-cln6\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ceroid lipofuscinosis, neuronal, 6A<\/td><td>CLN6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln6-related-cln6\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Epidermolysis bullosa, junctional 4, intermediate<\/td><td>COL17A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Alport syndrome 3B, autosomal recessive<\/td><td>COL4A3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alport-syndrome-x-linked\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Alport syndrome 2, autosomal recessive<\/td><td>COL4A4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alport-syndrome-x-linked\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Epidermolysis bullosa dystrophica, autosomal recessive<\/td><td>COL7A1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/epidermal-herpetiformis\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Carbamoylphosphate Synthetase I Deficiency<\/td><td>CPS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/n-acetylglutamate-synthase-deficiency-nags\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Cystinosis, nephropathic<\/td><td>CTNS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cystinosis\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Maple syrup urine disease, type II<\/td><td>DBT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/maple-syrup-urine-disease-type-1b\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Smith-Lemli-Opitz syndrome<\/td><td>DHCR7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/smith-lemli-opitz-syndrome-dhcr7\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Dihydrolipoamide dehydrogenase deficiency<\/td><td>DLD<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycine-encephalopathy-gldc-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Duchenne Muscular Dystrophy<\/td><td>DMD<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/duchenne-muscular-dystrophy\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency-centromeric instability-facial anomaliessyndrome 1<\/td><td>DNMT3B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Muscular dystrophy, limb-girdle, autosomal recessive 2<\/td><td>DYSF<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2b-dysf\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ectodermal dysplasia 1, hypohidrotic, X-linked<\/td><td>EDA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypohidrotic-ectodermal-dysplasia-x-linked-eda\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glutaric acidemia IIA<\/td><td>ETFA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glutaric-acidemia-type-2a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glutaric acidemia IIB<\/td><td>ETFB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glutaric-acidemia-type-2a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glutaric acidemia IIC<\/td><td>ETFDH<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glutaric-acidemia-type-2a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ellis-van Creveld Syndrome<\/td><td>EVC2, EVC<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hemophilia B<\/td><td>F9<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/factor-ix-deficiency-x-linked\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Tyrosinemia, type I<\/td><td>FAH<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tyrosinemia-type-1-fah\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fanconi anemia, complementation group A<\/td><td>FANCA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-type-c\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fanconi anemia, complementation group C<\/td><td>FANCC<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-type-c\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fanconi anemia, complementation group D2<\/td><td>FANCD2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-complementation-group-d2-fancd2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fanconi anemia, complementation group G<\/td><td>FANCG<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-type-c\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fanconi anemia, complementation group I<\/td><td>FANCI<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-complementation-group-i-fanci\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glycogen storage disease Ia<\/td><td>G6PC1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-1a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glycogen storage disease II<\/td><td>GAA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-2-pompe-disease-gaa\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Krabbe Disease<\/td><td>GALC<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/krabbe-disease-galc\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucopolysaccharidosis IVA<\/td><td>GALNS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-iva-galns\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Galactosemia<\/td><td>GALT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/galactose-1-phosphate-uridyltransferase-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glycogen storage disease IV<\/td><td>GBE1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fascial-glycogenosis\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glutaricaciduria, type I<\/td><td>GCDH<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glutaric-acidemia-type-1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Deafness, autosomal recessive 1A<\/td><td>GJB2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/deafness-and-hereditary-hearing-loss-overview\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fabry Disease<\/td><td>GLA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fabry-disease\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucopolysaccharidosis type IVB (Morquio)<\/td><td>GLB1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-ivb-morquio-glb1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glycine encephalopathy1<\/td><td>GLDC<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycine-encephalopathy-gldc-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucopolysaccharidosis type IIID<\/td><td>GNS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sanfilippo-syndrome-type-d-mucopolysaccharidosis-iiid\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ocular albinism, type I, Nettleship-Falls type<\/td><td>GPR143<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hyperinsulinemic hypoglycemia, familial, 4<\/td><td>HADH<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Thalassemia, alpha-<\/td><td>HBA1, HBA2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Thalassemia, beta<\/td><td>HBB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/beta-thalassemia\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Sickle cell disease<\/td><td>HBB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sickle-cell-disease\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Tay-Sachs Disease<\/td><td>HEXA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tay-sachs-disease\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucopolysaccharidosis type IIIC (Sanfilippo C)<\/td><td>HGSNAT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-iiic-sanfilippo-c\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Holocarboxylase synthetase deficiency<\/td><td>HLCS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-methylcrotonyl-coa-carboxylase-deficiency-2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>HMG-CoA synthase-2 deficiency<\/td><td>HMGCS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hermansky-Pudlak Syndrome 1<\/td><td>HPS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/eyelid-leucoderma\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hermansky-Pudlak Syndrome 3<\/td><td>HPS3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/eyelid-leucoderma\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucopolysaccharidosis II<\/td><td>IDS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-ii-hunter-syndrome-x-linked\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucopolysaccharidosis Ih\/s<\/td><td>IDUA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-ih-s-idua\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucopolysaccharidosis Is<\/td><td>IDUA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-is-idua\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucopolysaccharidosis Ih<\/td><td>IDUA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-ih-idua\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Severe combined immunodeficiency, X-linked<\/td><td>IL2RG<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Isovaleric Acidemia<\/td><td>IVD<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/isovaleric-acidemia\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hyperinsulinemic hypoglycemia, familial, 2<\/td><td>KCNJ11<\/td><td>\u2015<\/td><\/tr>\n<tr><td>LAMA3-Related Junctional Epidermolysis Bullosa<\/td><td>LAMA3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/junctional-epidermolysis-bullosa-herlitz-type\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>LAMB3-Related Junctional Epidermolysis Bullosa<\/td><td>LAMB3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/junctional-epidermolysis-bullosa-herlitz-type\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>LAMC2-Related Junctional Epidermolysis Bullosa<\/td><td>LAMC2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/junctional-epidermolysis-bullosa-herlitz-type\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Osteoporosis-pseudoglioma syndrome<\/td><td>LRP5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mannosidosis, alpha-, types I and II<\/td><td>MAN2B1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mannosidosis-alpha-types-i-and-ii-man2b1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>3-Methylcrotonyl-CoA carboxylase 1 deficiency<\/td><td>MCCC1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-methylcrotonyl-coa-carboxylase-deficiency-1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>3-Methylcrotonyl-CoA carboxylase 2 deficiency<\/td><td>MCCC2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-methylcrotonyl-coa-carboxylase-deficiency-1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Methylmalonyl-CoA epimerase deficiency<\/td><td>MCEE<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Ceroid lipofuscinosis, neuronal, 7<\/td><td>MFSD8<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-mfsd8-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Megalencephalic Leukoencephalopathy with Subcortical Cysts 1<\/td><td>MLC1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/megalencephalic-leukoencephalopathy-with-subcortical-cysts-mlc1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Methylmalonic aciduria, vitamin B12-responsive, type  cblA<\/td><td>MMAA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-acidemia-mmaa-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Methylmalonic aciduria, vitamin B12-responsive, type cblB<\/td><td>MMAB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-acidemia-mmaa-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Methylmalonic aciduria and homocystinuria, type cblC<\/td><td>MMACHC<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Methylmalonic aciduria and homocystinuria, type cblD<\/td><td>MMADHC<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Molybdenum Cofactor Deficiency A<\/td><td>MOCS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Myopathy, centronuclear, X-linked<\/td><td>MTM1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/myotubular-myopathy-x-linked\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Homocystinuria-megaloblastic anemia, cblG complementationtype<\/td><td>MTR<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/homocystinuria-type-cble\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Homocystinuria-megaloblastic anemia, cbl E type<\/td><td>MTRR<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/homocystinuria-type-cble\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Methylmalonic aciduria, mut(0) type<\/td><td>MMUT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-acidemia-mmaa-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucopolysaccharidosis type IIIB (Sanfilippo B)<\/td><td>NAGLU<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-iiic-sanfilippo-c\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Niemann-Pick disease, type C1<\/td><td>NPC1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-type-c1-d-npc1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Niemann-pick disease, type C2<\/td><td>NPC2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-type-c2-npc2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephronophthisis 3<\/td><td>NPHP3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nephronophthisis-3-nphp3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephrotic syndrome, type 1<\/td><td>NPHS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/finnish-congenital-nephrotic-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Adrenal hypoplasia, congenital<\/td><td>NR0B1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Albinism, oculocutaneous, type II<\/td><td>OCA2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/albinism-oculocutaneous-type-ii-oca2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ornithine Transcarbamylase Deficiency<\/td><td>OTC<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-transcarbamylase-deficiency-otc\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Phenylketonuria<\/td><td>PAH<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/phenylketonurea\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Propionicacidemia<\/td><td>PCCA, PCCB<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Peroxisome biogenesis disorder 1A (Zellweger)<\/td><td>PEX1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex1-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital disorder of glycosylation, type Ia<\/td><td>PMM2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-disorder-of-glycosylation-type-1a-pmm2-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ceroid lipofuscinosis, neuronal, 1<\/td><td>PPT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-ppt1-related-ppt1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hemophagocytic lymphohistiocytosis, familial, 2<\/td><td>PRF1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hemophagocytic-lymphohistiocytosis-familial-2-prf1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hyperphenylalaninemia, BH4-deficient, A<\/td><td>PTS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/genetic-diseases2\/ptps\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Omenn syndrome<\/td><td>RAG1, RAG2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/omenn-syndrome-rag2-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Severe combined immunodeficiency, B cell-negative<\/td><td>RAG1, RAG2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/omenn-syndrome-rag2-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy, limb-girdle, autosomal recessive 3<\/td><td>SGCA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2d-sgca\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy, limb-girdle, autosomal recessive<\/td><td>SGCG<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2c-sgcg\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucopolysaccharidosis type IIIA (Sanfilippo A)<\/td><td>SGSH<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-iiic-sanfilippo-c\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Carnitine deficiency, systemic primary<\/td><td>SLC22A5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carnitine-deficiency-systemic-primary-slc22a5\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Albinism, oculocutaneous, type VI<\/td><td>SLC24A5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hyperornithinemia-hyperammonemia-homocitrullinemiasyndrome<\/td><td>SLC25A15<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-translocase-deficiency-hyperornithinemia-hyperammonemia\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Deafness, autosomal recessive 4, with enlarged vestibularaqueduct<\/td><td>SLC26A4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/deafness-and-hereditary-hearing-loss-overview\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glycogen storage disease Ib<\/td><td>SLC37A4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-1a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glycogen storage disease Ic<\/td><td>SLC37A4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-1a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Albinism, oculocutaneous, type IV<\/td><td>SLC45A2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/albinism-oculocutaneous-type-iv-slc45a2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Niemann-Pick disease, type A<\/td><td>SMPD1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-types-a-b-smpd1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Niemann-Pick disease, type B<\/td><td>SMPD1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-types-a-b-smpd1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Netherton syndrome<\/td><td>SPINK5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hemophagocytic lymphohistiocytosis, familial, 4<\/td><td>STX11<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hemophagocytic-lymphohistiocytosis-familial-4-stx11\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease<\/td><td>STXBP2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hemophagocytic-lymphohistiocytosis-familial-5-with-or-without-microvillus-inclusion-disease-stxbp2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Osteopetrosis, autosomal recessive 1<\/td><td>TCIRG1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/osteopetrosis-autosomal-recessive-1-tcirg1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ichthyosis, congenital, autosomal recessive 1<\/td><td>TGM1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lamellar-ichthyosis-type-1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Cholestasis, progressive familial intrahepatic 4<\/td><td>TJP2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Joubert Syndrome 2<\/td><td>TMEM216<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Meckel Syndrome 2<\/td><td>TMEM216<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 6<\/td><td>TMEM67<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Meckel Syndrome 3<\/td><td>TMEM67<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>COACH syndrome 1<\/td><td>TMEM67<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephronophthisis 11<\/td><td>TMEM67<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ceroid lipofuscinosis, neuronal, 2<\/td><td>TPP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-tpp1-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Oculocutaneous Albinism Type 1<\/td><td>TYR<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/oculocutaneous-albinism-type-1-tyr\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Albinism, oculocutaneous, type III<\/td><td>TYRP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/albinism-oculocutaneous-type-iii-tyrp1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hemophagocytic lymphohistiocytosis, familial, 3<\/td><td>UNC13D<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hemophagocytic-lymphohistiocytosis-familial-3-unc13d\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Wolfram Syndrome 1<\/td><td>WFS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spinal Muscular Atrophy<\/td><td>SMN1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/spinal-muscular-atrophy-smn1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Aspartylglucosaminuria<\/td><td>AGA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aspartylglycosaminuria\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Polycystic kidney disease 4, with or without hepatic disease<\/td><td>PKHD1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-polycystic-kidney-disease\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay<\/td><td>SACS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-sacs\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bloom syndrome<\/td><td>BLM<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bloom-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined pituitary hormone deficiency 2<\/td><td>PROP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/prop1-related-combined-pituitary-hormone-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Dysautonomia, familial<\/td><td>ELP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-dysautonomia\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>GRACILE Syndrome<\/td><td>BCS1L<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gracile-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hereditary Motor and Sensory Neuropathy with AgenesisCorpus Callosum<\/td><td>SLC12A6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/andermann-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Usher Syndrome Type 1F<\/td><td>PCDH15<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-1f\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Usher Syndrome Type 3A<\/td><td>CLRN1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Argininemia<\/td><td>ARG1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>LCHAD deficiency<\/td><td>HADHA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial trifunctional protein deficiency 1<\/td><td>HADHA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial trifunctional protein deficiency 2<\/td><td>HADHB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-trifunctional-protein-deficiency-2-hadhb\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ataxia-telangiectasia<\/td><td>ATM<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/telangiectatic-ataxia\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hemolytic anemia, G6PD deficient (favism)<\/td><td>G6PD<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hemolytic-anemia-g6pd-deficient-favism-g6pd\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Galactokinase deficiency with cataracts<\/td><td>GALK1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/galactokinase-deficiency-galactosemia-type-ii-galk1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucolipidosis IV<\/td><td>MCOLN1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-type-iv-mcoln1-u\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Familial Mediterranean fever, AR<\/td><td>MEFV<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-mediterranean-fever\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nemaline myopathy 2, autosomal recessive<\/td><td>NEB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nemaline-myopathy-2-autosomal-recessive-neb\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Alpha- 1 antitrypsin deficiency<\/td><td>SERPINA1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alpha-1-antitrypsin-deficiency-serpina1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Gitelman syndrome<\/td><td>SLC12A3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gitelman-syndrome-slc12a3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Spastic paraplegia 11, autosomal recessive<\/td><td>SPG11<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Segawa syndrome, recessive<\/td><td>TH<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alport-syndrome-x-linked\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Laron dwarfism<\/td><td>GHR<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Adrenal Hyperplasia due to11-beta-Hydroxylase-Deficiency<\/td><td>CYP11B1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Adrenal Hyperplasia due to 17-alpha HydroxylaseDeficiency<\/td><td>CYP17A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>2,4-Dienoyl-CoA Reductase Deficiency<\/td><td>NADK2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>2-Methylbutyryl Glycinuria<\/td><td>ACADSB<\/td><td>\u2015<\/td><\/tr>\n<tr><td>3MC Syndrome 1<\/td><td>MASP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>3MC Syndrome 2<\/td><td>COLEC11<\/td><td>\u2015<\/td><\/tr>\n<tr><td>3-M Syndrome 2<\/td><td>OBSL1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>3-beta-Hydroxysteroid Dehydrogenase Deficiency<\/td><td>HSD3B2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>3-Methylglutaconic Aciduria type 1<\/td><td>AUH<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylglutaconuria\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>3-Methylglutaconic Aciduria type 3<\/td><td>OPA3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylglutaconuria\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>3-Methylglutaconic Aciduria type 5<\/td><td>DNAJC19<\/td><td>\u2015<\/td><\/tr>\n<tr><td>3-Methylglutaconic Aciduria type 8<\/td><td>HTRA2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>3-Methylglutaconic Aciduria With Cataracts, NeurologicInvolvement,And Neutropenia<\/td><td>CLPB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-neutropenia-hax1-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>3-Methylglutaconic aciduria with deafness, encephalopathy,Leigh-like syndrome<\/td><td>SERAC1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>3-hydroxy-3-methylglutaryl-CoA lyase deficiency<\/td><td>HMGCL<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-hydroxy-3-methylglutaryl-coenzyme-a-lyase-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>3-Hydroxyisobutyryl-Coa Hydrolase Deficiency<\/td><td>HIBCH<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pyridoxal 5&#x27;-Phosphate-dependent Epilepsy<\/td><td>PNPO<\/td><td>\u2015<\/td><\/tr>\n<tr><td>GM2-gangliosidosis, AB variant<\/td><td>GM2A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Adams-Oliver Syndrome 2<\/td><td>DOCK6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Adams-Oliver Syndrome 4<\/td><td>EOGT<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Aicardi-Goutieres Syndrome 1<\/td><td>TREX1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aicardi-goutieres-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Aicardi-Goutieres Syndrome 2<\/td><td>RNASEH2B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aicardi-goutieres-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Aicardi-Goutieres Syndrome 3<\/td><td>RNASEH2C<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aicardi-goutieres-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Aicardi-Goutieres Syndrome 4<\/td><td>RNASEH2A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aicardi-goutieres-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Aicardi-Goutieres Syndrome 5<\/td><td>SAMHD1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aicardi-goutieres-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Aicardi-Goutieres Syndrome 6<\/td><td>ADAR<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aicardi-goutieres-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Al Kaissi syndrome<\/td><td>CDK10<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Alazami Syndrome<\/td><td>LARP7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Alkuraya-Kucinskas Syndrome<\/td><td>BLTP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Allan-Herndon-Dudley syndrome<\/td><td>SLC16A2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Alstrom Syndrome<\/td><td>ALMS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alstrom-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Anauxetic dysplasia 2<\/td><td>POP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Antley-Bixler Syndrome With Genital Anomalies And DisorderedSteroidogenesis<\/td><td>POR<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Arts Syndrome<\/td><td>PRPS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Athabaskan Brain Stem Dysgenesis Syndrome<\/td><td>HOXA1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Baller-Gerold Syndrome<\/td><td>RECQL4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Bardet-Biedl syndrome 10<\/td><td>BBS10<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-10-bbs10\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bardet-Biedl syndrome 12<\/td><td>BBS12<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-bbs12-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bardet-Biedl syndrome 16<\/td><td>SDCCAG8<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-16-sdccag8\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bardet-Biedl syndrome 17<\/td><td>LZTFL1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-17-lztfl1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bardet-Biedl syndrome 1<\/td><td>BBS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-bbs1-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bardet-Biedl syndrome 2<\/td><td>BBS2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-2-bbs2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bardet-Biedl syndrome 3<\/td><td>ARL6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-3-arl6\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bardet-Biedl syndrome 4<\/td><td>BBS4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-4-bbs4\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bardet-Biedl syndrome 5<\/td><td>BBS5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-5-bbs5\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bardet-Biedl syndrome 7<\/td><td>BBS7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-7-bbs7\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bardet-Biedl syndrome 8<\/td><td>TTC8<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-8-ttc8\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bardet-Biedl syndrome 9<\/td><td>BBS9<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-9-bbs9\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Barth syndrome<\/td><td>TAFAZZIN<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/barth-syndrome-tafazzin\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bartter Syndrome 1<\/td><td>SLC12A1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bartter-syndrome-1-slc12a1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Bartter Syndrome 2<\/td><td>KCNJ1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Basel-Vanagait-Smirin-Yosef syndrome<\/td><td>MED25<\/td><td>\u2015<\/td><\/tr>\n<tr><td>BEHR syndrome<\/td><td>OPA1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>BH4-Deficient Hyperphenylalaninemia C<\/td><td>QDPR<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Chondrodysplasia, Blomstrand Type<\/td><td>PTH1R<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Borjeson-Forssman-Lehmann syndrome<\/td><td>PHF6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Boucher-Neuhauser syndrome<\/td><td>PNPLA6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Brachyolmia Type 4<\/td><td>PAPSS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Brown-Vialetto-Van Laere syndrome 1<\/td><td>SLC52A3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Brown-Vialetto-Van Laere syndrome 2<\/td><td>SLC52A2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Bruck Syndrome 1<\/td><td>FKBP10<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Bruck Syndrome 2<\/td><td>PLOD2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Brunner syndrome<\/td><td>MAOA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Burn-Mckeown Syndrome<\/td><td>TXNL4A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Carey-Fineman-Ziter syndrome<\/td><td>MYMK<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Carpenter syndrome 1<\/td><td>RAB23<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carpenter-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Carpenter Syndrome 2<\/td><td>MEGF8<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carpenter-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Cerebellar Ataxia, Cayman Type<\/td><td>ATCAY<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cenani-Lenz Syndactyly Syndrome<\/td><td>LRP4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Chanarin-Dorfman syndrome<\/td><td>ABHD5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Charcot-Marie-Tooth disease, Axonal, Type 2A2B<\/td><td>MFN2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Charcot-Marie-Tooth disease type 3<\/td><td>PRX<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Charcot-Marie-Tooth disease type 4B1<\/td><td>MTMR2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Charcot-Marie-Tooth disease type 4C<\/td><td>SH3TC2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Charcot-Marie-Tooth disease type 4D<\/td><td>NDRG1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Chediak-Higashi Syndrome<\/td><td>LYST<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Syndromic Mental Retardation, Christianson<\/td><td>SLC9A6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Chudley-McCullough Syndrome<\/td><td>GPSM2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Syndromic Mental Retardation, Claes-Jensen type<\/td><td>KDM5C<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cockayne Syndrome A<\/td><td>ERCC8<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cockayne Syndrome B<\/td><td>ERCC6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>CODAS Syndrome<\/td><td>LONP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Coffin-Lowry Syndrome<\/td><td>RPS6KA3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cohen Syndrome<\/td><td>VPS13B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Crigler-Najjar syndrome type 1<\/td><td>UGT1A1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/crigler-najjar-syndrome-type-i\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>D,L-2-hydroxyglutaric aciduria<\/td><td>SLC25A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>D-2-hydroxyglutaric aciduria 1<\/td><td>D2HGDH<\/td><td>\u2015<\/td><\/tr>\n<tr><td>DCLRE1C-Related Severe Combined Immunodeficiency<\/td><td>DCLRE1C<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/severe-combined-immunodeficiency-type-athabaskan\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Desbuquois Dysplasia 1<\/td><td>CANT1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Desbuquois Dysplasia 2<\/td><td>XYLT1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Donnai-Barrow syndrome<\/td><td>LRP2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Dyggve-Melchior-Clausen Disease<\/td><td>DYM<\/td><td>\u2015<\/td><\/tr>\n<tr><td>D-Glyceric Aciduria<\/td><td>GLYCTK<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Ehlers-Danlos Syndrome type VI<\/td><td>PLOD1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Ehlers-Danlos syndrome type VIIC<\/td><td>ADAMTS2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ehlers-danlos-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis,Myopathy, and Hearing Loss<\/td><td>FKBP14<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Elsahy-Waters syndrome<\/td><td>CDH11<\/td><td>\u2015<\/td><\/tr>\n<tr><td>MULTIPLE PTERYGIUM SYNDROME, ESCOBAR<\/td><td>VARIANT CHRNG<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Fanconi-Bickel Syndrome<\/td><td>SLC2A2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Farber Lipogranulomatosis<\/td><td>ASAH1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>FG Syndrome Type 2<\/td><td>FLNA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>FG Syndrome Type 4<\/td><td>CASK<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Filippi Syndrome<\/td><td>CKAP2L<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Frank-ter Haar Syndrome<\/td><td>SH3PXD2B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Fraser Syndrome 1<\/td><td>FRAS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Fraser syndrome 2<\/td><td>FREM2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Fraser syndrome 3<\/td><td>GRIP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-linked Mental retardation, FRAXE type<\/td><td>AFF2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-fraxe-type-aff2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>GABA-Transaminase Deficiency<\/td><td>ABAT<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Galloway-Mowat Syndrome 1<\/td><td>WDR73<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Galloway-Mowat syndrome 3<\/td><td>OSGEP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Geleophysic dysplasia 1<\/td><td>ADAMTSL2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ehlers-danlos-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Spondyloepimetaphyseal Dysplasia, Genevieve Type<\/td><td>NANS<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Goldberg-Shprintzen syndrome<\/td><td>KIFBP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Greenberg dysplasia<\/td><td>LBR<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Griscelli Syndrome 2<\/td><td>RAB27A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Dopa-Responsive Dystonia<\/td><td>GCH1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/segawa-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hennekam Lymphangiectasia-Lymphedema Syndrome 1<\/td><td>CCBE1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hennekam Lymphangiectasia-Lymphedema Syndrome 2<\/td><td>FAT4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hermansky-Pudlak Syndrome 4<\/td><td>HPS4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/eyelid-leucoderma\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hermansky-Pudlak Syndrome 5<\/td><td>HPS5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/eyelid-leucoderma\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hermansky-Pudlak Syndrome 6<\/td><td>HPS6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/eyelid-leucoderma\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-linked immunodysregulation, polyendocrinopathy, andenteropathy<\/td><td>FOXP3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Jalili Syndrome<\/td><td>CNNM4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Jervell and Lange-Nielsen syndrome 1<\/td><td>KCNQ1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Jervell and Lange-Nielsen syndrome 2<\/td><td>KCNE1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Johanson-Blizzard Syndrome<\/td><td>UBR1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Joubert Syndrome 10<\/td><td>OFD1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-10-ofd1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 14<\/td><td>TMEM237<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 15<\/td><td>CEP41<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-15-cep41\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 16<\/td><td>TMEM138<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-16-tmem138\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 18<\/td><td>TCTN3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-18-tctn3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 1<\/td><td>INPP5E<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-1-inpp5e\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 20<\/td><td>TMEM231<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-20-tmem231\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 21<\/td><td>CSPP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-21-cspp1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 24<\/td><td>TCTN2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-24-tctn2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 4<\/td><td>NPHP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Joubert Syndrome 8<\/td><td>ARL13B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-8-arl13b\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Kenny-Caffey Syndrome Type 1<\/td><td>TBCE<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Keutel Syndrome<\/td><td>MGP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Kindler Syndrome<\/td><td>FERMT1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Knobloch Syndrome Type I<\/td><td>COL18A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Kohlschutter-Tonz Syndrome<\/td><td>ROGDI<\/td><td>\u2015<\/td><\/tr>\n<tr><td>L-2-hydroxyglutaric aciduria<\/td><td>L2HGDH<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lafora Disease<\/td><td>EPM2A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Leber Congenital Amaurosis 12<\/td><td>RD3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-12-rd3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Leber Congenital Amaurosis 13<\/td><td>RDH12<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-13-rdh12\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Leber congenital amaurosis 14<\/td><td>LRAT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-14-lrat\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Leber Congenital Amaurosis 1<\/td><td>GUCY2D<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-1-gucy2d\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Leber Congenital Amaurosis 2<\/td><td>RPE65<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-2-rpe65\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Leber Congenital Amaurosis 3<\/td><td>SPATA7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-3-spata7\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Leber Congenital Amaurosis 5<\/td><td>LCA5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-lca5-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Leber Congenital Amaurosis 8<\/td><td>CRB1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-25-eys-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Leber Congenital Amaurosis 9<\/td><td>NMNAT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-9-nmnat1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Lesch-Nyhan Syndrome<\/td><td>HPRT1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>LIG4 syndrome<\/td><td>LIG4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lowe Syndrome<\/td><td>OCRL<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lujan-Fryns syndrome<\/td><td>MED12<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Majeed Syndrome<\/td><td>LPIN2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Marinesco-Sjogren Syndrome<\/td><td>SIL1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>MASA syndrome<\/td><td>L1CAM<\/td><td>\u2015<\/td><\/tr>\n<tr><td>McKusick-Kaufman Syndrome<\/td><td>MKKS<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Meckel syndrome 1<\/td><td>MKS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/meckel-gruber-syndrome-type-1-mks1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Meckel syndrome 5<\/td><td>RPGRIP1L<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Neonatal Severe Encephalopathy Due To MECP2 Mutations<\/td><td>MECP2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neonatal-severe-encephalopathy-due-to-mecp2-mutations-mecp2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Meester-Loeys syndrome<\/td><td>BGN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Muscular Dystrophy, Megaconial type<\/td><td>CHKB<\/td><td>\u2015<\/td><\/tr>\n<tr><td>MEHMO syndrome<\/td><td>EIF2S3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Meier-Gorlin Syndrome 1<\/td><td>ORC1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/meier-gorlin-syndrome-1-orc1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Meier-Gorlin Syndrome 3<\/td><td>ORC6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/meier-gorlin-syndrome-3-orc6\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Meier-Gorlin Syndrome 4<\/td><td>CDT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/meier-gorlin-syndrome-4-cdt1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Meier-Gorlin syndrome 7<\/td><td>CDC45<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/meier-gorlin-syndrome-7-cdc45\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Menkes Disease<\/td><td>ATP7A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Merosin-deficient congenital muscular dystrophy type 1A<\/td><td>LAMA2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Miller syndrome<\/td><td>DHODH<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mitchell-Riley syndrome<\/td><td>RFX6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mohr-Tranebjaerg syndrome<\/td><td>TIMM8A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Recurrent Pyogenic Bacterial Infections due to MYD88Deficiency<\/td><td>MYD88<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Syndromic Mental Retardation, Nascimento-type<\/td><td>UBE2A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Naxos Disease<\/td><td>JUP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neu-Laxova Syndrome 1<\/td><td>PHGDH<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-phosphoglycerate-dehydrogenase-deficiency-phgdh\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Neu-Laxova Syndrome 2<\/td><td>PSAT1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Norrie Disease<\/td><td>NDP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>N-acetylglutamate synthase deficiency<\/td><td>NAGS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/n-acetylglutamate-synthase-deficiency-nags\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ogden Syndrome<\/td><td>NAA10<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spondyloepiphyseal Dysplasia, Omani type<\/td><td>CHST3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Opitz Gbbb Syndrome, Type I<\/td><td>MID1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Opsismodysplasia<\/td><td>INPPL1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>PEHO syndrome<\/td><td>ZNHIT3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Perlman Syndrome<\/td><td>DIS3L2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Perrault Syndrome 3<\/td><td>CLPP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Perrault Syndrome 4<\/td><td>LARS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Peters Plus Syndrome<\/td><td>B3GLCT<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pierson Syndrome<\/td><td>LAMB2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/finnish-congenital-nephrotic-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pitt-Hopkins like syndrome 1<\/td><td>CNTNAP2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Poretti-Boltshauser syndrome<\/td><td>LAMA1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Raine Syndrome<\/td><td>FAM20C<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Syndromic Mental Retardation, Raymond type<\/td><td>ZDHHC9<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Renpenning syndrome<\/td><td>PQBP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Sandhoff Disease<\/td><td>HEXB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sandhoff-disease-hexb\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Metachromatic leukodystrophy due to Saposin B deficiency<\/td><td>PSAP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Schimke Immunoosseous Dysplasia<\/td><td>SMARCAL1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/schimke-immunoosseous-dysplasia-smarcal1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Schneckenbecken Dysplasia<\/td><td>SLC35D1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Schwartz-Jampel Syndrome, Type 1<\/td><td>HSPG2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>St\u00fcve-Wiedemann Syndrome<\/td><td>LIFR<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/stuve-wiedemann-syndrome-lifr\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>SC Phocomelia Syndrome<\/td><td>ESCO2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/roberts-syndrome-esco2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Seckel Syndrome Type 1<\/td><td>ATR<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/seckel-syndrome-type-1-atr\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Seckel Syndrome Type 2<\/td><td>RBBP8<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/seckel-syndrome-type-2-rbbp8\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Seckel Syndrome Type 5<\/td><td>CEP152<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/seckel-syndrome-type-5-cep152\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Sengers syndrome<\/td><td>AGK<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Senior-Loken Syndrome 4<\/td><td>NPHP4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/senior-loken-syndrome-4-nphp4\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Senior-Loken syndrome 5<\/td><td>IQCB1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/senior-loken-syndrome-5-iqcb1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Senior-Loken Syndrome 8<\/td><td>WDR19<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/senior-loken-syndrome-8-wdr19\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Shwachman-Diamond Syndrome<\/td><td>SBDS<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-linked Mental retardation syndrome, Siderius type<\/td><td>PHF8<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Simpson-Golabi-Behmel Syndrome Type 1<\/td><td>GPC3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Smith-McCort Dysplasia 2<\/td><td>RAB33B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Snyder-Robinson mental retardation syndrome<\/td><td>SMS<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Steel Syndrome<\/td><td>COL27A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>TARP Syndrome<\/td><td>RBM10<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Temtamy Preaxial Brachydactyly Syndrome<\/td><td>CHSY1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Temtamy Syndrome<\/td><td>C12orf57<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Tenascin-X deficiency type Ehlers-Danlos syndrome<\/td><td>TNXB<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Ullrich congenital muscular dystrophy 1<\/td><td>COL6A1, COL6A2, COL6A3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Usher Syndrome Type 1B<\/td><td>MYO7A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Usher Syndrome Type 1C<\/td><td>USH1C<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-1c-ush1c\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Usher syndrome, type 1D<\/td><td>CDH23<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-1f\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Usher Syndrome Type 1G<\/td><td>USH1G<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Deafness, Autosomal Recessive<\/td><td>CIB2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Usher Syndrome Type 2A<\/td><td>USH2A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-2a-ush2a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Usher Syndrome Type 2D<\/td><td>WHRN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Van Den Ende-Gupta Syndrome<\/td><td>SCARF2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Van Maldergem Syndrome 1<\/td><td>DCHS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Vici Syndrome<\/td><td>EPG5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Factor VII Deficiency<\/td><td>F7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/factor-vii-deficiency-f7\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Factor V deficiency<\/td><td>F5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/factor-v-leiden-thrombophilia\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Warburg Micro Syndrome 1<\/td><td>RAB3GAP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Warburg Micro Syndrome 2<\/td><td>RAB3GAP2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Warburg Micro Syndrome 3<\/td><td>RAB18<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Wieacker-Wolff Syndrome<\/td><td>ZC4H2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Wiskott-Aldrich Syndrome 1<\/td><td>WAS<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Multiple Epiphyseal Dysplasia with <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a>-Onset Diabetes Mellitus<\/td><td>EIF2AK3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Wolfram Syndrome 2<\/td><td>CISD2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Woodhouse-Sakati syndrome<\/td><td>DCAF17<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Alport syndrome 1, X-linked<\/td><td>COL4A5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alport-syndrome-x-linked\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-linked Charcot-Marie-Tooth disease 4<\/td><td>AIFM1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-linked Emery-Dreifuss Muscular Dystrophy 1<\/td><td>EMD<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-of-emery-dreifuss-type\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Properdin Deficiency<\/td><td>CFP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Hypophosphatemia<\/td><td>PHEX<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-linked retinitis pigmentosa\uff1aXLRP<\/td><td>RPGR<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-25-eys-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Myopathy with Excessive Autophagy<\/td><td>VMA21<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Lymphoproliferative syndrome 1<\/td><td>SH2D1A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Lymphoproliferative syndrome 2<\/td><td>XIAP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-linked Chronic Granulomatous Disease<\/td><td>CYBB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/chronic-granulomatous-disease\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Juvenile Retinoschisis<\/td><td>RS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/juvenile-retinoschisis\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Adrenoleukodystrophy<\/td><td>ABCD1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/adrenoleukodystrophy\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Myopathy, X-linked, with postural muscle atrophy<\/td><td>FHL1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-of-emery-dreifuss-type\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-linked sideroblastic anemia and ataxia<\/td><td>ABCB7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-linked Pigmentary disorder, reticulate, with systemicmanifestations<\/td><td>POLA1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-linked Lissencephaly 1<\/td><td>DCX<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-linked Lissencephaly 2<\/td><td>ARX<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-lissencephaly-2-arx\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Dyskeratosis Congenita<\/td><td>DKC1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spinal muscular atrophy, X-linked 2, infantile<\/td><td>UBA1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>autism spectrum disorder\u3000X-Linked<\/td><td>NLGN4X<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 12<\/td><td>THOC2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-12-thoc2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 1<\/td><td>IQSEC2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-1-iqsec2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 21<\/td><td>IL1RAPL1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-21-il1rapl1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 30<\/td><td>PAK3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-30-pak3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 41\/48<\/td><td>GDI1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 49<\/td><td>CLCN4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-49-clcn4\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 41<\/td><td>TSPAN7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-41-tspan7\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 61<\/td><td>RLIM<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-61-rlim\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 72<\/td><td>RAB39B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-72-rab39b\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 90<\/td><td>DLG3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-90-dlg3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 93<\/td><td>BRWD3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-93-brwd3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 96<\/td><td>SYP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-96-syp\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 97<\/td><td>ZNF711<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-97-znf711\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 98<\/td><td>NEXMIF<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-98-nexmif\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 99<\/td><td>USP9X<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-99-usp9x\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation 9<\/td><td>FTSJ1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/x-linked-mental-retardation-9-ftsj1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>X-Linked Mental Retardation with Cerebellar HypoplasiaDistinctive Facial Appearance<\/td><td>OPHN1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-linked \u03b1-thalassemia\/ Mental Retardation Syndrome<\/td><td>ATRX<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Syndromic Mental Retardation 14<\/td><td>UPF3B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Syndromic Mental Retardation 15<\/td><td>CUL4B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Syndromic Mental Retardation 35<\/td><td>RPL10<\/td><td>\u2015<\/td><\/tr>\n<tr><td>X-Linked Syndromic Mental Retardation 5<\/td><td>AP1S2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>You-Hoover-Fong syndrome<\/td><td>TELO2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Yunis-Varon Syndrome<\/td><td>FIG4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Alpha-N-acetylgalactosaminidase deficiency<\/td><td>NAGA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/acyl-coa-oxidase-i-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Beta-Mannosidosis<\/td><td>MANBA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/beta-mannosidosis-manba\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Beta-Ureidopropionase Deficiency<\/td><td>UPB1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Prolidase deficiency<\/td><td>PEPD<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Interleukin 1 Receptor Antagonist Deficiency<\/td><td>IL1RN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cataracts, Growth Hormone Deficiency, SensoryNeuropathy,sensorineural hearing loss, and skeletal dysplasia<\/td><td>IARS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cataract 18<\/td><td>FYCO1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cataract 40, Nance-Horan syndrome<\/td><td>NHS<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Leukocyte Adhesion Deficiency type 1<\/td><td>ITGB2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Leukocyte Adhesion Deficiency type 3<\/td><td>FERMT3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Galactosialidosis<\/td><td>CTSA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/galactosialidosis-ctsa\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Sudden Infant Death With Dysgenesis Of The Testes Syndrome<\/td><td>TSPYL1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spondyloepimetaphyseal Dysplasia With Joint Laxity, TypeWith Or Without Fractures<\/td><td>B3GALT6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Bowen-Conradi Syndrome<\/td><td>EMG1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Bifid Nose With Or Without Anorectal And Renal Anomalies<\/td><td>FREM1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pyridoxine-Refractory Sideroblastic Anemia<\/td><td>SLC25A38<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pyridoxine-Dependent Epilepsy<\/td><td>ALDH7A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Epidermolytic ichthyosis<\/td><td>KRT10<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Epidermolytic Hyperkeratosis 2B, Autosomal Recessive<\/td><td>KRT10<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Malonyl-Coa Decarboxylase Deficiency<\/td><td>MLYCD<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pyruvate kinase deficiency<\/td><td>PKLR<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-kinase-deficiency-pklr\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pyruvate Carboxylase Deficiency<\/td><td>PC<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-methylcrotonyl-coa-carboxylase-deficiency-2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pyruvate dehydrogenase E1-alpha deficiency<\/td><td>PDHA1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-pdhb-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pyruvate Dehydrogenase E1-Beta Deficiency<\/td><td>PDHB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-pdhb-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pyruvate Dehydrogenase Phosphatase Deficiency<\/td><td>PDP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency<\/td><td>LIAS<\/td><td>\u2015<\/td><\/tr>\n<tr><td>C1q deficiency<\/td><td>C1QA, C1QB, C1QC<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Complement hyperactivation, angiopathic thrombosis, andprotein-losing enteropathy<\/td><td>CD55<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Complement Factor I Deficiency<\/td><td>CFI<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Epimerase Deficiency Galactosemia<\/td><td>GALE<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hypomagnesemia 1, intestinal<\/td><td>TRPM6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Common Variable Immune Deficiency 1<\/td><td>ICOS<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Common Variable Immune Deficiency 2<\/td><td>TNFRSF13B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Common Variable Immune Deficiency 8 with Autoimmunity<\/td><td>LRBA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Spastic paraplegia 30<\/td><td>KIF1A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Dyskeratosis Congenita 5\/4<\/td><td>RTEL1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Robinow Syndrome<\/td><td>ROR2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive T Cell-Negative\u3001B Cell-Positive\u3001NKCell-Negative Severe Combined Immunodeficiency<\/td><td>JAK3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Persistent Hyperplastic Primary<\/td><td>ATOH7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Epidermolysis Bullosa Simplex<\/td><td>KRT14, KRT5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal recessive Thrombophilia due to protein C<\/td><td>PROC<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal recessive Thrombophilia due to protein S<\/td><td>PROS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Deafness 3<\/td><td>MYO15A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Deafness 7<\/td><td>TMC1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-deafness-7-tmc1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Deafness 8\/10<\/td><td>TMPRSS3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Deafness 9<\/td><td>OTOF<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-deafness-9-otof\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Osteopetrosis 2<\/td><td>TNFSF11<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-osteopetrosis-2-tnfsf11\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Osteopetrosis 3<\/td><td>CA2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-osteopetrosis-3-ca2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Osteopetrosis 4<\/td><td>CLCN7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-osteopetrosis-4-clcn7\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Osteopetrosis 5<\/td><td>OSTM1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-osteopetrosis-5-ostm1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Osteopetrosis 7<\/td><td>TNFRSF11A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-osteopetrosis-7-tnfrsf11a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spinocerebellar Ataxia 10<\/td><td>ANO10<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spinocerebellar-ataxia-10-ano10\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spinocerebellar Ataxia 13<\/td><td>GRM1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spinocerebellar-ataxia-13-grm1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spinocerebellar Ataxia 16<\/td><td>STUB1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spinocerebellar-ataxia-16-stub1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spinocerebellar Ataxia<\/td><td>1 SETX<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spinocerebellar-ataxia-pmpca\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spinocerebellar ataxia 20<\/td><td>SNX14<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spinocerebellar-ataxia-20-snx14\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spinocerebellar ataxia 21<\/td><td>SCYL1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spinocerebellar-ataxia-21-scyl1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spinocerebellar Ataxia<\/td><td>PMPCA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spinocerebellar-ataxia-pmpca\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 15<\/td><td>ZFYVE26<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-15-zfyve26\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 23<\/td><td>DSTYK<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-23-dstyk\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 26<\/td><td>B4GALNT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-26-b4galnt1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 35<\/td><td>FA2H<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-35-fa2h\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 45<\/td><td>NT5C2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-45-nt5c2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 46<\/td><td>GBA2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-46-gba2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 47<\/td><td>AP4B1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-47-ap4b1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 50<\/td><td>AP4M1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-50-ap4m1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 52<\/td><td>AP4S1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-52-ap4s1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 53<\/td><td>VPS37A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-53-vps37a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 54<\/td><td>DDHD2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-54-ddhd2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 56<\/td><td>CYP2U1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-56-cyp2u1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic Paraplegia 9B<\/td><td>ALDH18A1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-9b-aldh18a1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Cutis Laxa type 1A<\/td><td>FBLN5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Cutis Laxa type 1B<\/td><td>EFEMP2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Cutis Laxa type 1C<\/td><td>LTBP4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Cutis Laxa type 2A<\/td><td>ATP6V0A2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Cutis Laxa type 2B<\/td><td>PYCR1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Cytochrome B-Positive ChronicGranulomatous Disease Type II<\/td><td>NCF2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/chronic-granulomatous-disease\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Cytochrome B-Negative ChronicGranulomatous Disease<\/td><td>CYBA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/chronic-granulomatous-disease\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Myotonia Congenita<\/td><td>CLCN1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Dyskeratosis Congenita<\/td><td>WRAP53<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Microcephaly And Chorioretinopathy<\/td><td>TUBGCP6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Microcephaly And Chorioretinopathy<\/td><td>TUBGCP4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic Ataxia 8 with HypomyelinatingLeukodystrophy<\/td><td>NKX6-2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Congenital Ichthyosis 5<\/td><td>CYP4F22<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-congenital-ichthyosis-5-cyp4f22\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Congenital Ichthyosis 6<\/td><td>NIPAL4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-congenital-ichthyosis-6-nipal4\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Congenital Ichthyosis 9<\/td><td>CERS3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-congenital-ichthyosis-9-cers3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive,1<\/td><td>HPGD<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Intellectual developmental disorder, autosomal recessive 18<\/td><td>MED23<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Intellectual developmental disorder, autosomal recessive 27<\/td><td>LINS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Intellectual developmental disorder, autosomal recessive 38<\/td><td>HERC2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Intellectual developmental disorder, autosomal recessive 57<\/td><td>MBOAT7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Mental Retardation 13<\/td><td>TRAPPC9<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-mental-retardation-13-trappc9\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Mental Retardation 15<\/td><td>MAN1B1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-mental-retardation-15-man1b1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Mental Retardation 36<\/td><td>ADAT3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-mental-retardation-36-adat3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Mental Retardation 39<\/td><td>TTI2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-mental-retardation-39-tti2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Mental Retardation<\/td><td>3 CC2D1A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Mental Retardation 41<\/td><td>KPTN<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-mental-retardation-41-kptn\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Mental Retardation 42<\/td><td>PGAP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-mental-retardation-42-pgap1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Mental Retardation 44<\/td><td>METTL23<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-mental-retardation-44-mettl23\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Mental Retardation 49<\/td><td>GPT2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-mental-retardation-49-gpt2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Mental Retardation 58<\/td><td>ELP2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-mental-retardation-58-elp2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Mental Retardation<\/td><td>5 NSUN2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Mental Retardation<\/td><td>7 TUSC3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Osteogenesis Imperfecta type XV<\/td><td>WNT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/osteogenesis-imperfecta-type-xv-wnt1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Osteogenesis Imperfecta type VI<\/td><td>SERPINF1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/osteogenesis-imperfecta-type-vi-serpinf1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Osteogenesis Imperfecta type VIII<\/td><td>P3H1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/osteogenesis-imperfecta-type-viii-p3h1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Osteogenesis imperfecta, type X<\/td><td>SERPINH1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/osteogenesis-imperfecta-type-x-serpinh1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Achalasia-Addisonianism-Alacrima Syndrome<\/td><td>AAAS<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Postnatal Progressive Microcephaly With Seizures And Brain Atrophy<\/td><td>MED17<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hemorrhagic Destruction of the Brain, SubependymalCalcification and Cataracts<\/td><td>JAM3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Adrenocorticotropic hormone Deficiency<\/td><td>TBX19<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neurodegeneration due to Cerebral Folate Transport Deficiency<\/td><td>FOLR1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Epidermolysis Bullosa with Pyloric Atresia<\/td><td>ITGB4, ITGA6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis(MACSsyndrome)<\/td><td>RIN2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Band-Like Calcification with Simplified GyrationPolymicrogyria<\/td><td>OCLN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Band heterotopia<\/td><td>EML1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Multiple joint dislocations, short stature, craniofacialdysmorphism, and congenital heart defects<\/td><td>B3GAT3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Leukodystrophy, hypomyelinating, 2<\/td><td>GJC2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leukodystrophy-hypomyelinating-2-gjc2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>HSD10 mitochondrial disease<\/td><td>HSD17B10<\/td><td>\u2015<\/td><\/tr>\n<tr><td>D-bifunctional protein deficiency<\/td><td>HSD17B4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/d-biparasitic-enzyme-dbp-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Autosomal Recessive Distal Spinal Muscular Atrophy 1<\/td><td>IGHMBP2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Donohue Syndrome<\/td><td>INSR<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Gillespie syndrome, Autosomal recessive<\/td><td>ITPR1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>PERCHING syndrome<\/td><td>KLHL7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Familial Lecithin cholesterol acyltransferase deficiency<\/td><td>LCAT<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lysosomal acid lipase deficiency<\/td><td>LIPA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/wolman-disease\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital Hydrocephalus 2 with or without brain or eyeanomalies<\/td><td>MPDZ<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hypertrophic Neuropathy of Dejerine Sottas<\/td><td>MPZ<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cleft lip\/palate-ectodermal dysplasia syndrome<\/td><td>NECTIN1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>myoclonic epilepsy of Lafora<\/td><td>NHLRC1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Insensitivity to pain, congenital, with anhidrosis<\/td><td>NTRK1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-painlessness\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation,  \nand Ear Anomalies Syndrome<\/td><td>PIGL<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Plasminogen deficiency, type I<\/td><td>PLG<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Microcephaly, seizures, and developmental delay<\/td><td>PNKP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCYAND RED HAIR<\/td><td>POMC<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Thiamine metabolism dysfunction syndrome 2 (biotin- orthiamine-responsive encephalopathy type 2)<\/td><td>SLC19A3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autosomal Recessive Spastic paraplegia 20<\/td><td>SPART<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-20-spart\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Salt and pepper developmental regression syndrome, Autosomalrecessive<\/td><td>ST3GAL5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Gastrointestinal defects and immunodeficiency syndrome<\/td><td>TTC7A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Kaufman oculocerebrofacial syndrome<\/td><td>UBE3B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Epidermolysis bullosa simplex with pyloric atresia<\/td><td>PLEC<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Isolated Microphthalmia 8<\/td><td>ALDH1A3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Monocarboxylate Transporter 1 Deficiency<\/td><td>SLC16A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Proteasome-Associated Autoinflammatory Syndrome 1<\/td><td>PSMB8<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hypogonadotropic hypogonadism 1 with or without anosmia(Kallmann syndrome 1)<\/td><td>ANOS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hypomyelinating Leukodystrophy 10<\/td><td>PYCR2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypomyelinating-leukodystrophy-10-pycr2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hypomyelinating Leukodystrophy 12<\/td><td>VPS11<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypomyelinating-leukodystrophy-12-vps11\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hypomyelinating Leukodystrophy 14<\/td><td>UFM1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypomyelinating-leukodystrophy-14-ufm1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hypomyelinating Leukodystrophy 3<\/td><td>AIMP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypomyelinating-leukodystrophy-3-aimp1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hypomyelinating Leukodystrophy 4<\/td><td>HSPD1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypomyelinating-leukodystrophy-4-hspd1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hypomyelinating Leukodystrophy 5<\/td><td>HYCC1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypomyelinating-leukodystrophy-5-hycc1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hypomyelinating Leukodystrophy 7 with or without oligodontiaand\/or hypogonadotropic hypogonadism<\/td><td>POLR3A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypomyelinating-leukodystrophy-7-with-or-without-oligodontiaand-or-hypogonadotropic-hypogonadism-polr3a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hypomyelinating Leukodystrophy 8<\/td><td>POLR3B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypomyelinating-leukodystrophy-8-polr3b\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Epilepsy, Hearing Loss, And Mental Retardation Syndrome<\/td><td>AFG2A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Epilepsy with Variable Learning Disabilities and BehaviorDisorders<\/td><td>SYN1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Seizures, Sensorineural Deafness, Ataxia, Mental Retardation,and Electrolyte Imbalance Syndrome<\/td><td>KCNJ10<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Arterial tortuosity syndrome<\/td><td>SLC2A10<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Short-Rib Thoracic Dysplasia 14 With Polydactyly<\/td><td>KIAA0586<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Short-rib throacic dysplasia 15 with polydactyly<\/td><td>DYNC2LI1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Short-rib thoracic dysplasia 10 with or without polydactyly<\/td><td>IFT172<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/short-rib-thoracic-dysplasia-10-with-or-without-polydactyly-ift172\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Short-rib thoracic dysplasia 11 with or without polydactyly<\/td><td>DYNC2I2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/short-rib-thoracic-dysplasia-11-with-or-without-polydactyly-dync2i2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Short-rib thoracic dysplasia 13 with or without polydactyly<\/td><td>CEP120<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/short-rib-thoracic-dysplasia-13-with-or-without-polydactyly-cep120\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Short-rib thoracic dysplasia 2 with or without polydactyly<\/td><td>IFT80<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/short-rib-thoracic-dysplasia-2-with-or-without-polydactyly-ift80\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Short-rib thoracic dysplasia 3 with or without polydactyly<\/td><td>DYNC2H1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/short-rib-thoracic-dysplasia-3-with-or-without-polydactyly-dync2h1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Short-rib thoracic dysplasia 4 with or without polydactyly<\/td><td>TTC21B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/short-rib-thoracic-dysplasia-4-with-or-without-polydactyly-ttc21b\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Short-rib thoracic dysplasia 6 with or without polydactyly<\/td><td>NEK1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/short-rib-thoracic-dysplasia-6-with-or-without-polydactyly-nek1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Short-rib thoracic dysplasia 7 with or without polydactyly<\/td><td>WDR35<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/short-rib-thoracic-dysplasia-7-with-or-without-polydactyly-wdr35\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Short-rib thoracic dysplasia 8 with or without polydactyly<\/td><td>DYNC2I1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/short-rib-thoracic-dysplasia-8-with-or-without-polydactyly-dync2i1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Short-rib thoracic dysplasia 9 with or without polydactyly<\/td><td>IFT140<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/short-rib-thoracic-dysplasia-9-with-or-without-polydactyly-ift140\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Short Stature, Microcephaly, And Endocrine Dysfunction<\/td><td>XRCC4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Multicentric Osteolysis, Nodulosis, and Arthropathy<\/td><td>MMP2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Multiple Sulfatase Deficiency<\/td><td>SUMF1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/multiple-sulfatase-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Multiple congenital anomalies-hypotonia-seizures syndrome 1<\/td><td>PIGN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Multiple congenital anomalies-hypotonia-seizures syndrome 3<\/td><td>PIGT<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Multiple Pterygium Syndrome,lethal type<\/td><td>CHRNA1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Multiminicore disease<\/td><td>RYR1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/multiminicore-disease-ryr1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Multisystem Autoimmune Disease With Facial Dysmorphism<\/td><td>ITCH<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Multiple mitochondrial dysfunctions syndrome 1<\/td><td>NFU1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/multiple-mitochondrial-dysfunctions-syndrome-1-nfu1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Multiple mitochondrial dysfunctions syndrome 2<\/td><td>BOLA3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/multiple-mitochondrial-dysfunctions-syndrome-2-bola3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Multiple mitochondrial dysfunctions syndrome 3<\/td><td>IBA57<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/multiple-mitochondrial-dysfunctions-syndrome-3-iba57\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Multiple mitochondrial dysfunctions syndrome 4<\/td><td>ISCA2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/multiple-mitochondrial-dysfunctions-syndrome-4-isca2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Polymicrogyria with Seizures<\/td><td>RTTN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Catecholaminergic Polymorphic Ventricular Tachycardia 2<\/td><td>CASQ2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Catecholaminergic Polymorphic Ventricular Tachycardia 5 with or without muscle weakness<\/td><td>TRDN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Childhood-Onset Polyarteritis Nodosa<\/td><td>ADA2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Childhood-onset neurodegeneration with ataxia, dystonia, andgaze palsy<\/td><td>SQSTM1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Developmental Delay With Short Stature, Dysmorphic Features, And Sparse Hair<\/td><td>DPH1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>GAPO Syndrome<\/td><td>ANTXR1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Leigh Syndrome, French-Canadian Type<\/td><td>LRPPRC<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leigh-syndrome-french-canadian-type\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Metabolic encephalomyopathic crises, recurrent, withrhabdomyolysis, cardiac arrhythmias, and neurodegeneration<\/td><td>TANGO2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Fanconi anemia, complementation group B<\/td><td>FANCB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-type-g\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fanconi anemia, complementation group E<\/td><td>FANCE<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-complementation-group-e-fance\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fanconi anemia, complementation group F<\/td><td>FANCF<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-complementation-group-f-fancf\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fanconi anemia, complementation group<\/td><td>L FANCL<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Fanconi anemia, complementation group Q<\/td><td>ERCC4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-complementation-group-q-ercc4\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fanconi anemia, complementation group T<\/td><td>UBE2T<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-complementation-group-t-ube2t\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nonphotosensitive Trichothiodystrophy 4<\/td><td>MPLKIP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pulmonary Surfactant Metabolism Dysfunction 1<\/td><td>SFTPB<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pulmonary Surfactant Metabolism Dysfunction 3<\/td><td>ABCA3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pulmonary Venoocclusive Disease 2<\/td><td>EIF2AK4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 10<\/td><td>MTO1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-10-mto1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 11<\/td><td>RMND1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-11-rmnd1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 12<\/td><td>EARS2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-12-ears2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 14<\/td><td>FARS2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-14-fars2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 15<\/td><td>MTFMT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-15-mtfmt\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 17<\/td><td>ELAC2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-17-elac2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 1<\/td><td>GFM1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondria\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 20<\/td><td>VARS2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-20-vars2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 23<\/td><td>GTPBP3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-23-gtpbp3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 24<\/td><td>NARS2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-24-nars2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 27<\/td><td>CARS2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-27-cars2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 35<\/td><td>TRIT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-35-trit1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 3<\/td><td>TSFM<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 4<\/td><td>TUFM<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 7<\/td><td>MTRFR<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Combined Oxidative Phosphorylation Deficiency 8<\/td><td>AARS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Diarrhea 5 With Congenital Tufting Enteropathy<\/td><td>EPCAM<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gelatinous-drop-like-corneal-dystrophy\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Diarrhea 7<\/td><td>DGAT1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Diarrhea with Microvillus Atrophy 2<\/td><td>MYO5B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glycerol Kinase Deficiency<\/td><td>GK<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Nemaline Myopathy 10<\/td><td>LMOD3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nemaline-myopathy-10-lmod3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nemaline Myopathy 1<\/td><td>TPM3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nemaline-myopathy-1-tpm3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nemaline Myopathy 5<\/td><td>TNNT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nemaline-myopathy-5-tnnt1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nemaline Myopathy 7<\/td><td>CFL2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nemaline-myopathy-7-cfl2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nemaline Myopathy 8<\/td><td>KLHL40<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nemaline-myopathy-8-klhl40\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nemaline Myopathy 9<\/td><td>KLHL41<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nemaline-myopathy-9-klhl41\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hepatic Veno-Occlusive Disease with Immunodeficiency<\/td><td>SP110<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hyper IgE Syndrome<\/td><td>DOCK8<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hyperphosphatasia with Mental Retardation Syndrome 1<\/td><td>PIGV<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hyperphosphatasia-with-mental-retardation-syndrome-1-pigv\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hyperphosphatasia with Mental Retardation Syndrome 2<\/td><td>PIGO<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hyperphosphatasia-with-mental-retardation-syndrome-2-pigo\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hyperphosphatasia with Mental Retardation Syndrome 3<\/td><td>PGAP2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hyperphosphatasia-with-mental-retardation-syndrome-3-pgap2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hyperphosphatasia with Mental Retardation Syndrome 4<\/td><td>PGAP3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hyperphosphatasia-with-mental-retardation-syndrome-4-pgap3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hypermanganesemia With Dystonia 1<\/td><td>SLC30A10<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hypermanganesemia with dystonia 2<\/td><td>SLC39A14<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hyperuricemia, Pulmonary Hypertension, Renal Failure, AndAlkalosis syndrome<\/td><td>SARS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hyperprolinemia type I<\/td><td>PRODH<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Methemoglobinemia Due to Deficiency of MethemoglobinReductase<\/td><td>CYB5R3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Ataxia with oculomotor apraxia type 1<\/td><td>APTX<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ataxia-with-oculomotor-apraxia-type-1-aptx\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ataxia with vitamin E deficiency<\/td><td>TTPA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ataxia-associated-with-vitamin-e-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ataxia-Telangiectasia-Like Disorder 1<\/td><td>MRE11<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Microphthalmia, isolated 3<\/td><td>RAX<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glutamate Formiminotransferase Deficiency<\/td><td>FTCD<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glutathione synthetase deficiency<\/td><td>GSS<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Bone marrow failure syndrome 2<\/td><td>ERCC6L2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Bone marrow failure syndrome 3<\/td><td>DNAJC21<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Sclerosteosis 1<\/td><td>SOST<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cerebral creatine deficiency syndrome 2<\/td><td>GAMT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cerebral-creatine-deficiency-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1<\/td><td>VPS33B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2<\/td><td>VIPAS39<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Arthrogryposis, Mental Retardation and Seizures<\/td><td>SLC35A3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/arthrogryposis-mental-retardation-seizures\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Photosensitive Trichothiodystrophy 3<\/td><td>GTF2H5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Fructose 1,6 Bisphosphatase Deficiency<\/td><td>FBP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Peroxisome biogenesis disorder 10A<\/td><td>PEX3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Peroxisome biogenesis disorder 11A<\/td><td>PEX13<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Peroxisome Biogenesis Disorder 14B<\/td><td>PEX11B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Peroxisome biogenesis disorder 2A<\/td><td>PEX5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Peroxisome biogenesis disorder 3A(Zellweger)<\/td><td>PEX12<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-spectrum-disorders-pex6-related-pex6\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Peroxisome biogenesis disorder 4A<\/td><td>PEX6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-spectrum-disorders-pex6-related-pex6\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Peroxisome biogenesis disorder 5A<\/td><td>PEX2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex2-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Peroxisome biogenesis disorder 6A(Zellweger)<\/td><td>PEX10<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-spectrum-disorders-pex10-related-pex10\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Peroxisome biogenesis disorder 7A<\/td><td>PEX26<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Peroxisome biogenesis disorder 8A(Zellweger)<\/td><td>PEX16<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Peroxisomal Acyl-CoA oxidase deficiency<\/td><td>ACOX1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/acyl-coa-oxidase-i-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Treacher Collins Syndrome 3<\/td><td>POLR1C<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Ataxia, posterior column, with retinitis pigmentosa<\/td><td>FLVCR1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Succinic Semialdehyde Dehydrogenase Deficiency<\/td><td>ALDH5A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lipid storage myopathy due to flavin adenine dinucleotidesynthetase deficiency<\/td><td>FLAD1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Myopathy, lactic acidosis, and sideroblastic anemia 1<\/td><td>PUS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-myopathy-and-sideroblastic-anemia-mlasa1-pus1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Myopathy, Lactic acidosis, and Sideroblastic anemia 2<\/td><td>YARS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Myopathy With Extrapyramidal Signs<\/td><td>MICU1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mulibrey nanism<\/td><td>TRIM37<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Ehlers-Danlos Syndrome, Musculocontractural type 1<\/td><td>CHST14<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Muscular dystrophy-dystroglycanopathy (congenital with and without eye anomalies), type A, 7<\/td><td>CRPPA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Myofibrillar Myopathy 7<\/td><td>KY<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Myofibrillar Myopathy 8<\/td><td>PYROXD1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Acute Recurrent Myoglobinuria<\/td><td>LPIN1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spondylo-Megaepiphyseal-Metaphyseal Dysplasia<\/td><td>NKX3-2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spondylocarpotarsal Synostosis Syndrome<\/td><td>FLNB<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spondyloocular syndrome<\/td><td>XYLT2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy<\/td><td>PCYT1A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spondylocostal dysostosis 1<\/td><td>DLL3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spondylocostal dysostosis 2<\/td><td>MESP2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spondylocostal dysostosis 4<\/td><td>HES7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hypercholesterolemia, familial,1<\/td><td>LDLR<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-hypercholesterolemia-ldlr-related-ldlr\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Familial Hyperinsulinemic Hypoglycemia 1<\/td><td>ABCC8<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Familial Chloride Diarrhea<\/td><td>SLC26A3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Familial Candidiasis 2<\/td><td>CARD9<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Familial Normophosphatemic Tumoral Calcinosis<\/td><td>SAMD9<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Methylmalonic aciduria and homocystinuria type CblF<\/td><td>LMBRD1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Methylmalonic aciduria and homocysteinemia, type cblX<\/td><td>HCFC1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mevalonic Aciduria<\/td><td>MVK<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Thyroid dyshormonogenesis 5<\/td><td>DUOXA2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Thyroid dyshormonogenesis 6<\/td><td>DUOX2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pseudohypoaldosteronism, type I<\/td><td>SCNN1A,SCNN1B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Interstitial lung and liver disease<\/td><td>MARS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Omodysplasia 1<\/td><td>GPC6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Brittle Cornea Syndrome 1<\/td><td>ZNF469<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Brittle Cornea Syndrome 2<\/td><td>PRDM5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Progressive Myoclonic Epilepsy 1A<\/td><td>CSTB<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Progressive Myoclonic Epilepsy 1B<\/td><td>PRICKLE1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Progressive Myoclonic Epilepsy 3<\/td><td>KCTD7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Progressive Myoclonic Epilepsy 4<\/td><td>SCARB2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Progressive Myoclonic Epilepsy 6<\/td><td>GOSR2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Progressive Familial Intrahepatic Cholestasis 1<\/td><td>ATP8B1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Progressive Pseudorheumatoid Dysplasia<\/td><td>CCN6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Encephalopathy, progressive, early-onset, with brain edema and\/or leukoencephalopathy<\/td><td>NAXE<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Proximal Renal Tubular Acidosis with Ocular Abnormalities<\/td><td>SLC4A4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cerebral creatine deficiency syndrome 3<\/td><td>GATM<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spastic Ataxia 2<\/td><td>KIF1C<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spastic Ataxia 3<\/td><td>MARS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spastic paraplegia and psychomotor retardation with or without seizures<\/td><td>HACE1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Megalencephalic Leukoencephalopathy with Subcortical Cysts2A<\/td><td>HEPACAM<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Giant Axonal Neuropathy-1<\/td><td>GAN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Orofaciodigital syndrome XVI<\/td><td>TMEM107<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Orofaciodigital Syndrome V<\/td><td>DDX59<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Dilated Cardiomyopathy With Woolly Hair And Keratoderma<\/td><td>DSP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lysinuric Protein Intolerance<\/td><td>SLC7A7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lysinuric-protein-intolerance\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Geroderma Osteodysplasticum<\/td><td>GORAB<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Tyrosinemia Type II<\/td><td>TAT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tyrosinemia-type-ii-tat\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Tyrosinemia Type III<\/td><td>HPD<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tyrosinemia-type-iii-hpd\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>CK Syndrome<\/td><td>NSDHL<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Refsum disease<\/td><td>PHYH<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Ehlers-Danlos syndrome, spondylodysplastic type, 1<\/td><td>B4GALT7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cold-induced Sweating Syndrome 1<\/td><td>CRLF1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cold-induced Sweating Syndrome 2<\/td><td>CLCF1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia<\/td><td>MTHFD1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Combined pituitary hormone deficiency 1<\/td><td>POU1F1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/prop1-related-combined-pituitary-hormone-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Combined pituitary hormone deficiency 3<\/td><td>LHX3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pituitary-hormone-deficiency-combined-3-lhx3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Desmosterolosis<\/td><td>DHCR24<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Split-Hand\/Foot Malformation 6<\/td><td>WNT10B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lymphoproliferative Syndrome 1<\/td><td>ITK<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lymphoproliferative Syndrome 2<\/td><td>CD27<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Triosephosphate Isomerase Deficiency<\/td><td>TPI1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Phosphoglycerate Kinase Deficiency<\/td><td>PGK1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Phosphoserine Phosphatase Deficiency<\/td><td>PSPH<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Thiamine-Responsive Megaloblastic Anemia Syndrome<\/td><td>SLC19A2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral StriatalDegeneration and Progressive Polyneuropathy Type)<\/td><td>SLC25A19<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Thiamine Metabolism Dysfunction Syndrome 5 (EpisodicEncephalopathy type)<\/td><td>TPK1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Sulfocysteinuria<\/td><td>SUOX<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Craniolenticulosutural Dysplasia<\/td><td>SEC23A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Craniofrontonasal syndrome<\/td><td>EFNB1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Craniosynostosis and Dental Anomalies<\/td><td>IL11RA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cranioectodermal Dysplasia 1<\/td><td>IFT122<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Craniofacial Dysmorphism, Skeletal Anomalies, And mental Retardation syndrome<\/td><td>TMCO1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Bare lymphocyte syndrome, type II, complementation group A<\/td><td>CIITA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Bare lymphocyte syndrome, type II, complementation group B<\/td><td>RFXANK<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Bare lymphocyte syndrome, type II, complementation group D<\/td><td>RFXAP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Chronic Atrial And Intestinal Dysrhythmia<\/td><td>SGO1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Trichohepatoenteric syndrome 1<\/td><td>SKIC3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Trichohepatoenteric Syndrome 2<\/td><td>SKIC2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Ichthyosis Follicularis-Atrichia-Photophobia Syndrome<\/td><td>MBTPS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Microcephaly, progressive, seizures, and cerebral andatrophy<\/td><td>QARS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Immunoskeletal dysplasia with neurodevelopmentalabnormalities<\/td><td>EXTL3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Immunodeficiency with Hyper-IgM, type 1<\/td><td>CD40LG<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Immunodeficiency with Hyper-IgM, type 3<\/td><td>CD40<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Immunodeficiency-Centromeric Instability-Facial AnomaliesSyndrome 2<\/td><td>ZBTB24<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Immunodeficiency 10<\/td><td>STIM1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-10-stim1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 11A<\/td><td>CARD11<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-11a-card11\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 12<\/td><td>MALT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-12-malt1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 15B<\/td><td>IKBKB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-15b-ikbkb\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 19<\/td><td>CD3D<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-19-cd3d\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 23<\/td><td>PGM3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-23-pgm3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 24<\/td><td>CTPS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-24-ctps1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 27A<\/td><td>IFNGR1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-27a-ifngr1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 28<\/td><td>IFNGR2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-28-ifngr2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 31B<\/td><td>STAT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-31b-stat1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 35<\/td><td>TYK2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-35-tyk2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 40<\/td><td>DOCK2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-40-dock2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 42<\/td><td>RORC<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-42-rorc\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 47<\/td><td>ATP6AP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-47-atp6ap1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 48<\/td><td>ZAP70<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-48-zap70\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 51<\/td><td>IL17RA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-51-il17ra\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 52<\/td><td>LAT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-52-lat\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 54<\/td><td>MCM4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-54-mcm4\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Immunodeficiency 9<\/td><td>ORAI1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/immunodeficiency-9-orai1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Arthrogryposis, distal, with impaired proprioception and touch<\/td><td>PIEZO2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Dopa-responsive dystonia due to sepiapterin reductasedeficiency<\/td><td>SPR<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Molybdenum cofactor deficiency C<\/td><td>GPHN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Molybdenum Cofactor Deficiency Complementation Group B<\/td><td>MOCS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Nijmegen breakage syndrome,<\/td><td>NBN<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nijmegen-breakage-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nijmegen Breakage Syndrome-like Disorder<\/td><td>RAD50<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cystic Leukoencephalopathy without Megalencephaly<\/td><td>RNASET2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cerebral Dysgenesis, Neuropathy, Ichthyosis, And PalmoplantarKeratoderma Syndrome<\/td><td>SNAP29<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Leukoencephalopathy with Brain Stem and Spinal CordInvolvement and Lactate Elevation<\/td><td>DARS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hypomyelination with brainstem and spinal cord involvement andleg spasticity<\/td><td>DARS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cerebral Creatine Deficiency Syndrome 1<\/td><td>SLC6A8<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cerebral-creatine-deficiency-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hydrolethalus Syndrome 1<\/td><td>HYLS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hydrolethalus-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hydrolethalus Syndrome 2<\/td><td>KIF7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cerebrotendinous xanthomatosis<\/td><td>CYP27A1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pure-yellow-tumour-of-the-tendon\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pontocerebellar hypoplasia type 10<\/td><td>CLP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-10-clp1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pontocerebellar hypoplasia type 11<\/td><td>TBC1D23<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-11-tbc1d23\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pontocerebellar hypoplasia type 1A<\/td><td>VRK1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-1a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pontocerebellar Hypoplasia type 1B<\/td><td>EXOSC3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pontocerebellar Hypoplasia, Type 1C<\/td><td>EXOSC8<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pontocerebellar hypoplasia type 2A<\/td><td>TSEN54<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pontocerebellar hypoplasia type 2B<\/td><td>TSEN2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pontocerebellar Hypoplasia type 2D<\/td><td>SEPSECS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-2d\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pontocerebellar Hypoplasia, Type 2E<\/td><td>VPS53<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-2e\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pontocerebellar hypoplasia type 6<\/td><td>RARS2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-rars2-related-rars2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pontocerebellar hypoplasia, type 7<\/td><td>TOE1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-7-toe1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pontocerebellar hypoplasia type 9<\/td><td>AMPD2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-9-ampd2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Cerebroretinal Microangiopathy With Calcifications And<\/td><td>Cysts CTC1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Ventriculomegaly With Cystic Kidney Disease<\/td><td>CRB2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Periventricular Nodular Heterotopia 2<\/td><td>ARFGEF2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cerebrooculofacioskeletal Syndrome 2<\/td><td>ERCC2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Visceral Heterotaxy 1<\/td><td>ZIC3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Visceral Heterotaxy 7<\/td><td>MMP21<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mucopolysaccharidosis type VII<\/td><td>GUSB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-vii-gusb\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Urofacial Syndrome 1<\/td><td>HPSE2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Urofacial Syndrome 2<\/td><td>LRIG2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Parkinson Disease 15<\/td><td>FBXO7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Parkinson Disease 19<\/td><td>DNAJC6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Pelizaeus-Merzbacher disease<\/td><td>PLP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Poikiloderma with Neutropenia<\/td><td>USB1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Purine Nucleoside Phosphorylase Deficiency<\/td><td>PNP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Horizontal gaze palsy with progressive scoliosis 1<\/td><td>ROBO3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Polyglucosan Body Myopathy 1 With Or WithoutImmunodeficiency<\/td><td>RBCK1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mosaic variegated aneuploidy syndrome 1<\/td><td>BUB1B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Rigid Spine Muscular Dystrophy 1<\/td><td>SELENON<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Juvenile Paget Disease<\/td><td>TNFRSF11B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Primary Lateral Sclerosis, Juvenile<\/td><td>ALS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mild non-BH4-deficient Hyperphenylalaninemia<\/td><td>DNAJC12<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Achromatopsia 2<\/td><td>CNGA3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/achromatopsia-cnbg3-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Achromatopsia 4<\/td><td>GNAT2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Achromatopsia 7<\/td><td>ATF6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hyaline fibromatosis syndrome<\/td><td>ANTXR2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Carnitine Palmitoyltransferase I Deficiency<\/td><td>CPT1A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carnitine-palmitoyltransferase-i-deficiency-cpt1a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Carnitine Palmitoyltransferase II Deficiency<\/td><td>CPT2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carnitine-palmitoyltransferase-2-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Carnitine-Acylcarnitine Translocase Deficiency<\/td><td>SLC25A20<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carnitine-acylcarnitine-translocase-deficiency-slc25a20\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Chylomicron Retention Disease<\/td><td>SAR1B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cartilage-hair hypoplasia<\/td><td>RMRP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Achondrogenesis type 1A<\/td><td>TRIP11<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Achondrogenesis type 1B<\/td><td>SLC26A2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/achondrogenesis-type-1b-slc26a2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Trimethylaminuria<\/td><td>FMO3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly<\/td><td>NBAS<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Short Stature, Onychodysplasia, Facial Dysmorphism, AndHypotrichosis<\/td><td>POC1A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neurodevelopmental disorder with progressive microcephaly,spasticity, and brain anomalies<\/td><td>PLAA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neurodevelopmental disorder with microcephaly, hypotonia,variable and brain anomalies<\/td><td>PRUNE1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures<\/td><td>WDR45B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neurodevelopmental disorder with or without hypotonia,seizures, and cerebellar atrophy<\/td><td>PIGG<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neurodevelopmental disorder with microcephaly, seizures, andcortical atrophy<\/td><td>VARS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neurodegeneration with brain iron accumulation 1<\/td><td>PANK2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neurodegeneration with brain iron accumulation 2B<\/td><td>PLA2G6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neurodegeneration with brain iron accumulation 4(MitochondrialMembrane Protein-Associated Neurodegeneration)<\/td><td>C19orf12<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neuronal Ceroid-Lipofuscinoses 10<\/td><td>CTSD<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neuronal Ceroid Lipofuscinosis 8<\/td><td>CLN8<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln8-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephrotic Syndrome Type 11<\/td><td>NUP107<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nephrotic-syndrome-type-11-nup107\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephrotic Syndrome Type 12<\/td><td>NUP93<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nephrotic-syndrome-type-12-nup93\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephrotic Syndrome Type 14<\/td><td>SGPL1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nephrotic-syndrome-type-14-sgpl1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephrotic Syndrome Type 2<\/td><td>NPHS2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/finnish-congenital-nephrotic-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephrotic Syndrome Type 3<\/td><td>PLCE1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/finnish-congenital-nephrotic-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephrotic Syndrome Type 7<\/td><td>DGKE<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nephrotic-syndrome-type-7-dgke\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephrotic Syndrome Type 9<\/td><td>COQ8B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nephrotic-syndrome-type-9-coq8b\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephronophthisis 16<\/td><td>ANKS6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nephronophthisis-16-anks6\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephronophthisis 19<\/td><td>DCDC2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nephronophthisis-19-dcdc2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephronophthisis 20<\/td><td>MAPKBP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nephronophthisis-20-mapkbp1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephronophthisis 2<\/td><td>INVS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nephronophthisis-2-invs\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Nephronophthisis-Like Nephropathy 1<\/td><td>XPNPEP3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Renal-Hepatic-Pancreatic Dysplasia 2<\/td><td>NEK8<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Renal tubular dysgenesis<\/td><td>ACE, AGT, REN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Diabetes insipidus, nephrogenic, 2<\/td><td>AQP2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-renal-urinary-stones\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hypomagnesemia 5, renal, with ocular involvement<\/td><td>CLDN19<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Growth retardation, impaired intellectual development,hypotonia, and hepatopathy<\/td><td>IARS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Growth Retardation, Developmental Delay, Facial Dysmorphism<\/td><td>FTO<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Septooptic Dysplasia<\/td><td>HESX1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Optic Atrophy 10 With Or Without Ataxia, Mental Retardation,And Seizures<\/td><td>RTN4IP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Retinal Arterial Macroaneurysm With Supravalvular PulmonicStenosis<\/td><td>IGFBP7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Retinitis pigmentosa 14<\/td><td>TULP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-26\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Retinitis pigmentosa 59<\/td><td>DHDDS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-59-dhdds-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Retinitis pigmentosa 77<\/td><td>REEP6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Retinitis pigmentosa with or without skeletal anomalies<\/td><td>CWC27<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Retinal dystrophy with macular staphyloma<\/td><td>CFAP410<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cone-rod dystrophy<\/td><td>AIPL1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cone-Rod Dystrophy 10<\/td><td>SEMA4A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cone-Rod Dystrophy 3<\/td><td>ABCA4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-26\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Spondylometaepiphyseal Dysplasia, Short Limb-Hand type<\/td><td>DDR2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>bilateral frontoparietal polymicrogyria<\/td><td>ADGRG1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Limb pelvis hypoplasia aplasia syndrome<\/td><td>WNT7A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Spastic Tetraplegia, Thin Corpus Callosum, And ProgressiveMicrocephaly<\/td><td>SLC1A4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Leukodystrophy, hypomyelinating, 9<\/td><td>RARS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leukodystrophy-hypomyelinating-9-rars1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fetal akinesia deformation sequence 2<\/td><td>RAPSN<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Meconium Ileus<\/td><td>GUCY2C<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glycosylphosphatidylinositol Biosynthesis Defect 15<\/td><td>GPAA1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glucocorticoid Deficiency 1<\/td><td>MC2R<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glucocorticoid Deficiency 2<\/td><td>MRAP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glucocorticoid Deficiency 4<\/td><td>NNT<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glycogen Storage Disease type III<\/td><td>AGL<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glycogen storage disease type IXa1\/IXa2<\/td><td>PHKA2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glycogen storage disease type IXb<\/td><td>PHKB<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glycogen storage disease type IXc<\/td><td>PHKG2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glycogen storage disease type IXd<\/td><td>PHKA1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glycogen Storage Disease type VII<\/td><td>PFKM<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-7\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glycogen Storage Disease type VI<\/td><td>PYGL<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Glycogen Storage Disease type V<\/td><td>PYGM<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-5-mcardle-disease-pygm\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Glycogen Storage Disease type XIV<\/td><td>PGM1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Isolated growth hormone deficiency type III<\/td><td>BTK<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Intellectual developmental disorder, X-linked, Turner type<\/td><td>HUWE1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Asparagine Synthetase Deficiency<\/td><td>ASNS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/asparagine-synthetase-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Sideroblastic Anemia With B-Cell Immunodeficiency, PeriodicFevers,And Developmental Delay<\/td><td>TRNT1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Diaphanospondylodysostosis<\/td><td>BMPER<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Encephalopathy, Progressive, With Or Without Lipodystrophy<\/td><td>BSCL2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Sialidosis<\/td><td>NEU1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sialidosis-neu1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Ectodermal dysplasia, Ectrodactyly, and macular dystrophySyndrome<\/td><td>CDH3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Ectodermal Dysplasia 10b, Hypohidrotic\/Hair\/Tooth<\/td><td>type EDAR<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lathosterolosis<\/td><td>SC5D<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Reticular Dysgenesis<\/td><td>AK2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Epilepsy, early-onset, vitamin B6-dependent<\/td><td>PLPBP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Vitamin D-dependent rickets Type IA<\/td><td>CYP27B1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Vitamin K-dependent clotting factors, combined deficiency 2<\/td><td>VKORC1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Abetalipoproteinemia<\/td><td>MTTP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/abetalipoproteinemia\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Alacrima, Achalasia, And Mental Retardation Syndrome<\/td><td>GMPPA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lissencephaly 4<\/td><td>NDE1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lissencephaly-4-nde1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Lissencephaly 5<\/td><td>LAMB1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lissencephaly-5-lamb1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Lissencephaly 6<\/td><td>KATNB1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lissencephaly-6-katnb1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Lissencephaly 8<\/td><td>TMTC3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lissencephaly-8-tmtc3\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Acheiropody<\/td><td>LMBR1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Atransferrinemia<\/td><td>TF<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Chorea-Acanthocytosis<\/td><td>VPS13A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/choreacanthocytosis\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Fatal Infantile Cardioencephalomyopathy due to CytochromeOxidase Deficiency 1<\/td><td>SCO2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Fatal Infantile Cardioencephalomyopathy due to CytochromeOxidase Deficiency 2<\/td><td>COX15<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Diarrhea 8, Secretory Sodium<\/td><td>SLC9A3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Cataracts, Hearing Loss, And Neurodegeneration<\/td><td>SLC33A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Bile Acid Synthesis Defect 1<\/td><td>HSD3B7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Bile Acid Synthesis Defect 2<\/td><td>AKR1D1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Bile Acid Synthesis Defect 3<\/td><td>CYP7B1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital short bowel syndrome(CLMP)<\/td><td>CLMP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Multiple congenital anomalies-hypotonia-seizures syndrome 2<\/td><td>PIGA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect<\/td><td>LGI4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hypothyroidism Congenital Nongoitrous 1<\/td><td>TSHR<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hypothyroidism Congenital Nongoitrous 4<\/td><td>TSHB<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Dyserythropoietic Anemia Type II<\/td><td>SEC23B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Myasthenic Syndrome 10<\/td><td>DOK7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital Myasthenic Syndrome 13<\/td><td>DPAGT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-myasthenic-syndrome-13-dpagt1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital Myasthenic Syndrome 14<\/td><td>ALG2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-myasthenic-syndrome-14-alg2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital Myasthenic Syndrome 20<\/td><td>SLC5A7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-myasthenic-syndrome-20-slc5a7\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital Myasthenic Syndrome 3B, fast-channel<\/td><td>CHRND<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Myasthenic Syndrome 4A, slow-channel<\/td><td>CHRNE<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital Myasthenic Syndrome 5<\/td><td>COLQ<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital Myasthenic Syndrome 6<\/td><td>CHAT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-myasthenic-syndrome-6-chat\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital Myasthenic Syndrome 9<\/td><td>MUSK<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy, congenital, with cataracts and intellectualdisability<\/td><td>INPP5K<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10<\/td><td>RXYLT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-dystroglycanopathy-congenital-with-brain-and-eye-anomalies-type-a10-rxylt1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11<\/td><td>B3GALNT2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-dystroglycanopathy-congenital-with-brain-and-eye-anomalies-type-a11-b3galnt2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A12<\/td><td>POMK<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-dystroglycanopathy-congenital-with-brain-and-eye-anomalies-type-a12-pomk\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1<\/td><td>POMT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-dystroglycanopathy-congenital-with-brain-and-eye-anomalies-type-a1-pomt1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2<\/td><td>POMT2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-dystroglycanopathy-congenital-with-brain-and-eye-anomalies-type-a2-pomt2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3<\/td><td>POMGNT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-dystroglycanopathy-congenital-with-brain-and-eye-anomalies-type-a3-pomgnt1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4<\/td><td>FKTN<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-dystroglycanopathy-congenital-with-brain-and-eye-anomalies-type-a4-fktn\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5<\/td><td>FKRP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-dystroglycanopathy-congenital-with-brain-and-eye-anomalies-type-a5-fkrp\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6<\/td><td>LARGE1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-dystroglycanopathy-congenital-with-brain-and-eye-anomalies-type-a6-large1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8<\/td><td>POMGNT2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-dystroglycanopathy-congenital-with-brain-and-eye-anomalies-type-a8-pomgnt2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital Stationary Night Blindness, Type 1A<\/td><td>NYX<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Stationary Night Blindness, Type 1E<\/td><td>GPR179<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Stationary Night Blindness, Type 2B<\/td><td>CABP4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Syndromic congenital sodium diarrhea<\/td><td>SPINT2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Hydrocephalus 1<\/td><td>CCDC88C<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Prothrombin Deficiency<\/td><td>F2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lipodystrophy, congenital generalized, type 4<\/td><td>CAVIN1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or Complete<\/td><td>CYP11A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Ib<\/td><td>MPI<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-dysglycosylation\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Ic<\/td><td>ALG6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-n-linked-glycosylation-pathway-disorders\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Id<\/td><td>ALG3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Ig<\/td><td>ALG12<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Ih<\/td><td>ALG8<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Ik<\/td><td>ALG1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Il<\/td><td>ALG9<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Im<\/td><td>DOLK<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation In<\/td><td>RFT1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Ip<\/td><td>ALG11<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Iq<\/td><td>SRD5A3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>NGLY1-related congenital disorder of deglycosylation\uff08old\uff1aCDG type Iv\uff09<\/td><td>NGLY1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Iy<\/td><td>SSR4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation IIa<\/td><td>MGAT2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation IIe<\/td><td>COG7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation IIk<\/td><td>TMEM165<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation IIl<\/td><td>COG6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Iin<\/td><td>SLC39A8<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Disorders of Glycosylation Iio<\/td><td>CCDC115<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Insensitivity to Pain<\/td><td>SCN9A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-painlessness\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Congenital alopecia and T-Cell Immunodeficiency and nail dystrophy<\/td><td>FOXN1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Amegakaryocytic Thrombocytopenia<\/td><td>MPL<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Afibrinogenemia<\/td><td>FGA, FGB, FGG<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital fiber-type disproportion myopathy<\/td><td>ACTA1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Congenital Thrombotic thrombocytopenic purpura<\/td><td>ADAMTS13<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome<\/td><td>PRG4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Fibrochondrogenesis 1<\/td><td>COL11A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Fibrochondrogenesis 2<\/td><td>COL11A2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mitochondrial DNA depletion syndrome 11<\/td><td>MGME1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-dna-depletion-syndrome-11-mgme1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial DNA depletion syndrome 13<\/td><td>FBXL4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-dna-depletion-syndrome-13-fbxl4\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial DNA depletion syndrome 1<\/td><td>TYMP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/myoneurogastrointestinal-encephalopathy-mngie-tymp\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial DNA depletion syndrome 2<\/td><td>TK2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-dna-depletion-syndrome-2-tk2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial DNA depletion syndrome 3<\/td><td>DGUOK<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-dna-depletion-syndrome-3-dguok\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial DNA depletion syndrome 4A<\/td><td>POLG<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mitochondrial DNA depletion syndrome 5<\/td><td>SUCLA2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-dna-depletion-syndrome-5-sucla2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial DNA depletion syndrome 6<\/td><td>MPV17<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/navajo-neurohepatopathy-mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial DNA depletion syndrome 7<\/td><td>TWNK<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-dna-depletion-syndrome-7-twnk\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial DNA depletion syndrome 8A\/8B<\/td><td>RRM2B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mitochondrial DNA depletion syndrome 9<\/td><td>SUCLG1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-dna-depletion-syndrome-9-suclg1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency<\/td><td>ECHS1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 1<\/td><td>NDUFS4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-1-ndufs4\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 10<\/td><td>NDUFAF2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-10-ndufaf2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 12<\/td><td>NDUFA1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-12-ndufa1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 16<\/td><td>NDUFAF5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-ndufaf5-related-ndufaf5\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 17<\/td><td>NDUFAF6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-17-ndufaf6\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 19<\/td><td>FOXRED1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-19-foxred1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 21<\/td><td>NUBPL<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-21-nubpl\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 22<\/td><td>NDUFA10<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-22-ndufa10\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 4<\/td><td>NDUFV1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-4-ndufv1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 5<\/td><td>NDUFS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-5-ndufs1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 6<\/td><td>NDUFS2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-6-ndufs2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 7<\/td><td>NDUFV2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-7-ndufv2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 9<\/td><td>NDUFS6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-ndufs6-related-ndufs6\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 2<\/td><td>NDUFS8<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-2-ndufs8\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 3<\/td><td>NDUFS7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-i-deficiency-nuclear-type-3-ndufs7\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex II deficiency, nuclear type 2<\/td><td>SDHAF1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mitochondrial complex IV deficiency, nuclear type 1<\/td><td>SURF1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leigh-syndrome-french-canadian-type-2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex IV deficiency, nuclear type 3<\/td><td>COX10<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-iv-deficiency-nuclear-type-3-cox10\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex III deficiency nuclear type 2<\/td><td>TTC19<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mitochondrial complex III deficiency nuclear type 5<\/td><td>UQCRC2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mitochondrial complex III deficiency nuclear type 8<\/td><td>LYRM7<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mitochondrial complex IV deficiency, nuclear type 11<\/td><td>COX20<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-iv-deficiency-nuclear-type-11-cox20\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex IV deficiency, nuclear type 12<\/td><td>PET100<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-iv-deficiency-nuclear-type-12-pet100\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex IV deficiency, nuclear type 17<\/td><td>COA8<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-iv-deficiency-nuclear-type-17-coa8\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial complex I deficiency, nuclear type 20<\/td><td>ACAD9<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex1-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mitochondrial Complex V (ATP Synthase) Deficiency, NuclearType 2<\/td><td>TMEM70<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mitochondrial Neurodevelopmental disorder with abnormalmovements and lactic acidosis with or without seizures<\/td><td>WARS2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Adenylosuccinase Deficiency<\/td><td>ADSL<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Infantile Transient Liver Failure<\/td><td>TRMU<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/acute-infantile-liver-failure\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Cerebellofaciodental Syndrome<\/td><td>BRF1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cerebellar ataxia, mental retardation, and dysequilibriumsyndrome 1<\/td><td>VLDLR<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cerebellar-ataxia-mental-retardation-and-dysequilibriumsyndrome-1-vldlr\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Cerebellar ataxia, mental retardation, and dysequilibriumsyndrome 2<\/td><td>WDR81<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cerebellar ataxia, mental retardation, and dysequilibriumsyndrome 4<\/td><td>ATP8A2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Microcephalic Osteodysplastic Primordial Dwarfism, Type I<\/td><td>RNU4ATAC<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Microcephalic Osteodysplastic Primordial Dwarfism, Type II<\/td><td>PCNT<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Microcephaly,Short Stature, And Limb Abnormalities<\/td><td>DONSON<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Microcephaly, Seizures, Spasticity, And Brain Calcifications<\/td><td>PCDH12<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Microcephaly, Epilepsy, and Diabetes Syndrome<\/td><td>IER3IP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Microcephaly, Short Stature, And Impaired Glucose Metabolism1<\/td><td>TRMT10A<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Microcephaly-Capillary Malformation Syndrome<\/td><td>STAMBP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Microphthalmia with coloboma 3<\/td><td>VSX2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/microphthalmia-anophthalmia\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Acrodermatitis Enteropathica, Zinc-Deficiency Type<\/td><td>SLC39A4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neonatal Bartter syndrome type 4A with sensorineural deafness<\/td><td>BSND<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Citrullinemia, Type II, Neonatal-Onset<\/td><td>SLC25A13<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/citrin-deficiency\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Neonatal Diabetes Mellitus with Congenital Hypothyroidism<\/td><td>GLIS3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Neonatal Severe Hyperparathyroidism<\/td><td>CASR<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lethal Neonatal Rigidity and Multifocal Seizure Syndrome<\/td><td>BRAT1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hemochromatosis, type 2A<\/td><td>HJV<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hemochromatosis-type-2a-hfe2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Platelet abnormalities with eosinophilia and immune-mediatedinflammatory disease<\/td><td>ARPC1B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Homocystinuria due to MTHFR deficiency<\/td><td>MTHFR<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Moyamoya disease 6 with or without achalasia<\/td><td>GUCY1A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Fumarase Deficiency<\/td><td>FH<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-hypercholesterolemia\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Severe Congenital Neutropenia, Autosomal Recessive,3<\/td><td>HAX1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-neutropenia-hax1-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Severe Congenital Neutropenia, Autosomal Recessive,4<\/td><td>G6PC3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Severe Congenital Neutropenia, Autosomal Recessive,5<\/td><td>VPS45<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-hypospadias\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Severe Congenital Neutropenia, Autosomal Recessive,6<\/td><td>JAGN1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Fucosidosis<\/td><td>FUCA1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fucosidosis-fuca1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Inflammatory Bowel Disease 28<\/td><td>IL10RA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Anterior segement dysgenesis 2<\/td><td>FOXE3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Anterior segement dysgenesis 7<\/td><td>PXDN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy<\/td><td>STRADA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Insulin-Like Growth Factor I, Resistance to<\/td><td>IGF1R<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hereditary Sensory and Autonomic Neuropathy type IIB<\/td><td>RETREG1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hereditary Sensory and Autonomic Neuropathy type II<\/td><td>WNK1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hereditary Sensory and Autonomic Neuropathy type V<\/td><td>NGF<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-painlessness\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hereditary Sensory and Autonomic Neuropathy type VIII<\/td><td>PRDM12<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hereditary Hyperekplexia 3<\/td><td>SLC6A5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hereditary Hyperekplexia 4<\/td><td>ATAD1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hemochromatosis type 2B<\/td><td>HAMP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hereditary-haemochromatosis\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Hereditary Folate Malabsorption<\/td><td>SLC46A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hereditary Motor And Sensory Neuropathy type VIB<\/td><td>SLC25A46<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Ethylmalonic Encephalopathy<\/td><td>ETHE1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ethylmalonic-acid-encephalopathy\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Isobutyryl-CoA dehydrogenase deficiency<\/td><td>ACAD8<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Striatonigral Degeneration, Infantile<\/td><td>NUP62<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Generalized Arterial Calcification of Infancy 2<\/td><td>ABCC6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hypotonia, Infantile, With Psychomotor Retardation and Characteristic facies 1<\/td><td>NALCN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hypotonia, Infantile, With Psychomotor Retardation and Characteristic facies 2<\/td><td>UNC80<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Hypotonia, Infantile, With Psychomotor Retardation and Characteristic facies 3<\/td><td>TBCK<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Infantile Parkinsonism-Dystonia<\/td><td>SLC6A3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Infantile Sudden cardiac failure<\/td><td>PPA2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Free sialic acid storage disease, infantile form<\/td><td>SLC17A5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/salla-disease\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Infantile Cerebellar-Retinal Degeneration<\/td><td>ACO2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Right Atrial Isomerism<\/td><td>GDF1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Primary Autosomal Recessive Microcephaly 10<\/td><td>ZNF335<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-autosomal-recessive-microcephaly-10-znf335\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Autosomal Recessive Microcephaly 15<\/td><td>MFSD2A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-autosomal-recessive-microcephaly-15-mfsd2a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Autosomal Recessive Microcephaly 17<\/td><td>CIT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-autosomal-recessive-microcephaly-17-cit\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Autosomal Recessive Microcephaly 1<\/td><td>MCPH1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-autosomal-recessive-microcephaly-1-mcph1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Autosomal Recessive Microcephaly 20<\/td><td>KIF14<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-autosomal-recessive-microcephaly-20-kif14\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Autosomal Recessive Microcephaly 2, With Or WithoutCorticalmalformations<\/td><td>WDR62<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-autosomal-recessive-microcephaly-2-with-or-withoutcorticalmalformations-wdr62\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Autosomal Recessive Microcephaly 3<\/td><td>CDK5RAP2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-autosomal-recessive-microcephaly-3-cdk5rap2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Autosomal Recessive Microcephaly 4<\/td><td>KNL1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-autosomal-recessive-microcephaly-4-knl1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Autosomal Recessive Microcephaly 5<\/td><td>ASPM<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-autosomal-recessive-microcephaly-5-aspm\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Autosomal Recessive Microcephaly 6<\/td><td>CPAP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-autosomal-recessive-microcephaly-6-cpap\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Autosomal Recessive Microcephaly 7<\/td><td>STIL<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-autosomal-recessive-microcephaly-7-stil\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Coenzyme Q10 deficiency 1<\/td><td>COQ2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-coenzyme-q10-deficiency-1-coq2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Coenzyme Q10 deficiency 4<\/td><td>COQ8A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-coenzyme-q10-deficiency-4-coq8a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Coenzyme Q10 deficiency 6<\/td><td>COQ6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-coenzyme-q10-deficiency-6-coq6\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Coenzyme Q10 deficiency 7<\/td><td>COQ4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-coenzyme-q10-deficiency-7-coq4\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Hyperoxaluria Type I<\/td><td>AGXT<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-hyperoxaluria-type-1-agxt\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Primary Open Angle Glaucoma 3A<\/td><td>CYP1B1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Distal Arthrogryposis type 5D<\/td><td>ECEL1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Distal Renal Tubular Acidosis with Hemolytic Anemia<\/td><td>SLC4A1<\/td><td>\u2015<\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a>-Onset Myopathy, Areflexia, Respiratory Distress, andDysphagia<\/td><td>MEGF10<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum<\/td><td>TBCD<\/td><td>\u2015<\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Infantile Epileptic Encephalopathy 16<\/td><td>TBC1D24<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/early-infantile-epileptic-encephalopathy-16-tbc1d24\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Infantile Epileptic Encephalopathy 25<\/td><td>SLC13A5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/early-infantile-epileptic-encephalopathy-25-slc13a5\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Infantile Epileptic Encephalopathy 28<\/td><td>WWOX<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/early-infantile-epileptic-encephalopathy-28-wwox\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Infantile Epileptic Encephalopathy 37<\/td><td>FRRS1L<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/early-infantile-epileptic-encephalopathy-37-frrs1l\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Infantile Epileptic Encephalopathy 38<\/td><td>ARV1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/early-infantile-epileptic-encephalopathy-38-arv1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Infantile Epileptic Encephalopathy 3<\/td><td>SLC25A22<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/early-infantile-epileptic-encephalopathy-3-slc25a22\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Infantile Epileptic Encephalopathy 44<\/td><td>UBA5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/early-infantile-epileptic-encephalopathy-44-uba5\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Infantile Epileptic Encephalopathy 48<\/td><td>AP3B2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/early-infantile-epileptic-encephalopathy-48-ap3b2\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Infantile Epileptic Encephalopathy 49<\/td><td>DENND5A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/early-infantile-epileptic-encephalopathy-49-dennd5a\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Infantile Epileptic Encephalopathy 8<\/td><td>ARHGEF9<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/early-infantile-epileptic-encephalopathy-8-arhgef9\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Infantile Epileptic Encephalopathy 9<\/td><td>PCDH19<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/early-infantile-epileptic-encephalopathy-9-pcdh19\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Proliferative Vasculopathy And Hydranencephaly-HydrocephalySyndrome<\/td><td>FLVCR2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Mucolipidosis III alpha\/beta<\/td><td>GNPTAB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-ii-iii-gnptab\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Mucolipidosis III Gamma<\/td><td>GNPTG<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-iii-gamma-gnptg\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Xeroderma Pigmentosum Group A<\/td><td>XPA<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Xeroderma Pigmentosum Group C<\/td><td>XPC<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Xeroderma Pigmentosum Group G<\/td><td>ERCC5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cortical Malformations, Occipital<\/td><td>LAMC3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Branched-chain Ketoacid Dehydrogenase Kinase Deficiency<\/td><td>BCKDK<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Limb-Girdle Muscular Dystrophy type 2E<\/td><td>SGCB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2e\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Limb-Girdle Muscular Dystrophy type 2F<\/td><td>SGCD<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Limb-Girdle Muscular Dystrophy type 2G<\/td><td>TCAP<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Limb-Girdle Muscular Dystrophy type 2H<\/td><td>TRIM32<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Limb-Girdle Muscular Dystrophy type 2S<\/td><td>TRAPPC11<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Limb-Girdle Muscular Dystrophy type 2T<\/td><td>GMPPB<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Acromesomelic dysplasia 1<\/td><td>NPR2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Acromesomelic dysplasia 2A<\/td><td>GDF5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Acromesomelic dysplasia 3<\/td><td>BMPR1B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Rhizomelic Chondrodysplasia Punctata type 1<\/td><td>PEX7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/rhizomelic-chondrodysplasia-punctata-type-1-pex7\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Rhizomelic Chondrodysplasia Punctata type 2<\/td><td>GNPAT<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Rhizomelic chondrodysplasia punctata, type 3<\/td><td>AGPS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/rhizomelic-chondrodysplasia-punctata-type-1-pex7\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Lipoyltransferase 1 deficiency<\/td><td>LIPT1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lipoid Congenital Adrenal Hyperplasia<\/td><td>STAR<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoid-adrenal-hyperplasia-star\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Pycnodysostosis<\/td><td>CTSK<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pycnody-sostosis\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Lethal Arthrogryposis With Anterior Horn Cell Disease<\/td><td>GLE1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Popliteal Pterygium Syndrome, Lethal Type<\/td><td>RIPK4<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lethal congenital contracture syndrome 11<\/td><td>GLDN<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lethal Congenital Contracture Syndrome 2<\/td><td>ERBB3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lethal Congenital Contracture Syndrome 3<\/td><td>PIP5K1C<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lethal Congenital Contracture Syndrome 7<\/td><td>CNTNAP1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Lethal Restrictive Dermopathy<\/td><td>ZMPSTE24<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies<\/td><td>OTUD6B<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Intellectual developmental disorder with cardiac arrhythmia<\/td><td>GNB5<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Foveal Hypoplasia 2<\/td><td>SLC38A8<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Centronuclear Myopathy 2<\/td><td>BIN1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Severe Combined Immunodeficiency with Microcephaly, GrowthRetardation, and Sensitivity to Ionizing Radiation<\/td><td>NHEJ1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Severe combined immunodeficiency, T cell-negative, B-cell\/natural killer-cell positive<\/td><td>IL7R<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Transcobalamin II Deficiency<\/td><td>TCN2<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Transaldolase Deficiency<\/td><td>TALDO1<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Autoimmune Polyendocrine Syndrome Type 1<\/td><td>AIRE<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autoimmune-polyendocrine-gland-syndrome-type1\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<tr><td>Syndromic Microphthalmia 12<\/td><td>RARB<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Microphthalmia, syndromic 9<\/td><td>STRA6<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Histiocytosis-lymphadenopathy plus syndrome<\/td><td>SLC29A3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Aromatic L-Amino Acid Decarboxylase Deficiency<\/td><td>DDC<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Orofaciodigital Syndrome XIV<\/td><td>C2CD3<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Cone-Rod Dystrophy 16<\/td><td>CFAP418<\/td><td>\u2015<\/td><\/tr>\n<tr><td>Achromatopsia 3<\/td><td>CNGB3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/achromatopsia-cnbg3-related\/\">Click here for details on this condition<\/a><\/td><\/tr>\n<\/table>\n<\/div>\n<\/div>\n<style>\n.disease_list_1200_wrap{\n    max-height:640px;\n    overflow-y:auto;\n    overflow-x:auto;\n    border:1px solid #ddd;\n    margin-bottom:40px;\n}\n.disease_list_1200{\n    margin-bottom:0 !important;\n    font-size:0.9rem;\n}\n.disease_list_1200 th{\n    position:sticky;\n    top:0;\n    background-color:#f2a8c3;\n    z-index:1;\n}\n<\/style>\n\n\n\n\n<div class=\"section-separator\">\n<h2 class=\"wp-block-heading\">Understanding Recessive Genetic Disorders at Hiro Clinic<\/h2>\n<p>At Hiro Clinic, we offer prenatal testing to screen genes associated with severe recessive genetic disorders. This test extracts and analyzes genetic material from mucosal cells collected from the inner cheek of both the mother and father. Based on their combined genetic information, it determines whether the fetus is at risk of inheriting a severe genetic condition. In our clinic\u2019s findings to date, approximately 70% of individuals carry at least one recessive gene mutation. Even if you are a carrier, you will almost never experience any symptoms yourself.<\/p>\n<p>For instance, even with a rare recessive genetic disorder that affects only 1 in 40,000 individuals, 1 in 100 people is a carrier (someone who holds a gene mutation without developing symptoms). This test is valuable for identifying whether both the mother and father are carriers and predicting the risk of recessive genetic conditions.<\/p>\n\n<p>At Hiro Clinic, we believe that identifying carrier genes and evaluating potential links to recessive genetic disorders based on parental gene combinations makes this a highly useful screening test.<\/p>\n<p>A key feature of this test is that <span class=\"underline\" style=\"text-decoration: 5px underline #ffff66; text-underline-offset: -1px; font-weight: 700; color: #e54c84;\">it detects all gene combinations previously associated with genetic anomalies to determine whether a specific genetic variant is genuinely pathogenic.<\/span><\/p>\n<p>Genes vary from individual to individual. This variability is common even among critical genes, and this natural diversity is what makes each person unique. However, certain genetic variants can carry pathogenic risks.<\/p>\n<p>Information on gene combinations is shared in global databases. By searching these databases, we can assess whether a specific genetic change carries pathogenic significance.<\/p>\n<p>When both the mother and father carry pathogenic variants at the exact same location, there is a high risk of the child developing the condition. However, simply looking at genetic variants alone is not enough; <span class=\"underline\" style=\"text-decoration: 5px underline #ffff66; text-underline-offset: -1px; color: #e54c84;\">it is essential to accurately analyze and classify (annotate) whether a genetic change is truly a disease-causing abnormality.<\/span><\/p>\n<\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Below is a summary recommendation issued in the United States by the American College of Obstetricians and Gynecologists (ACOG). It emphasizes that, at a minimum, all pregnant women should be provided with information about the availability of such testing.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">ACOG Committee Opinion (No. 691) Summary \/ Excerpt<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u30fbAll pregnant women should be provided with information about genetic carrier screening. Patients also have the option to decline testing after receiving counseling.<br>\u30fbCarrier screening and counseling are ideally performed prior to pregnancy (preconception).<br>\u30fbIf an individual is identified as a carrier, their partner should also be offered testing following counseling. When time is limited for making prenatal diagnostic decisions, simultaneous testing for both the patient and partner is recommended.<br>\u30fbIf both partners are identified as carriers, counseling should be provided. Prenatal diagnosis or assisted reproductive technologies should be considered to reduce the risk of having an affected child.<br>\u30fbIf an individual is found to be a carrier, their relatives are also at risk for the same mutation. Therefore, the patient should be encouraged to inform them of this risk and the availability of carrier screening. Obstetricians, gynecologists, and healthcare providers must not disclose this information without the patient&#8217;s permission.<br>\u30fbIt is important to obtain the patient&#8217;s family history and, if possible, the partner&#8217;s genetic background and risks. The family history should include the family&#8217;s ethnic background and any consanguinity (blood relation). If a family history is present, screening for specific conditions should be offered, and the patient may benefit from counseling.<br>\u30fbScreening for specific conditions should be performed only once in a person&#8217;s lifetime, and the results should be saved in the patient&#8217;s medical records. However, because advances in genetic testing are rapid, new screening panels may include additional mutations. Decisions regarding re-testing should be made under the guidance of a genetics professional, who can best evaluate the benefits of re-testing to identify new mutations.<br>\u30fbPrenatal carrier screening does not replace newborn screening, nor does newborn screening replace the potential value of prenatal carrier screening.<br>\u30fbIf a patient requests carrier screening for specific conditions that are available and reasonable compared to other screening options, the requested screening should be offered to the patient (regardless of ethnicity or family history) after they have been informed of the risks, benefits, and limitations of the test.<br>\u30fbThe cost of individual condition-based carrier screening can sometimes be higher than commercially available expanded carrier screening (ECS). When selecting a carrier screening approach, the costs to both the patient and the healthcare system should be taken into consideration.<\/p>\n\n\n\n<div class=\"about-231\">\n  <h2>About Testing for Recessive Genetic Disorder Genes<\/h2>\n  <div class=\"container\">\n    <div class=\"accordion-wrap\">\n      <div class=\"accordion-button\">\n        <p>Testing Method \/ Limitations of Testing<\/p>\n      <\/div>\n      <div class=\"accordion-text\">\n        <p>\n          Genomic deoxyribonucleic acid (gDNA) is extracted using a standardized method and mechanically fragmented prior to DNA library preparation.<br>\n          Target genomic regions are enriched using solution-based hybridization methods, and sequencing is performed via Next-Generation Sequencing (NGS).<br>\n          The generated sequence reads are aligned to a reference genome, and variants are identified using a proprietary bioinformatics pipeline.<br>\n          For recessive inheritance, single nucleotide variants (SNVs), small insertions and deletions (indels \u2264 30 bp), and copy number variations (CNVs) can be detected.<br>\n          Variants are classified according to the criteria of the American College of Medical Genetics and Genomics (ACMG) tiers 3\u20135.<br>\n          Variant classification and interpretation are performed using the Varsome Clinical platform, based on the information available at the time of testing.<br>\n          <span class=\"bold\">Only pathogenic and likely pathogenic variants are reported. Variants detected that are classified as variants of uncertain significance (VUS), benign, or likely benign will not be reported.<\/span><br>\n          Genetic counseling is recommended regarding clinical interpretation and results.<br>\n          <br>\n          A: For Autosomal Results:<br>\n          A-1: &#8220;No clinically significant variants detected&#8221;<br>\n          While this does not completely guarantee that the subject is not a carrier of a hereditary condition, it indicates the absence of identified gene mutations, suggesting a low likelihood of being a carrier.<br>\n          A-2: &#8220;Clinically significant variant(s) detected&#8221;<br>\n          Indicates that a genetic change was identified, showing that the subject is a carrier for that condition. In such cases, the subject may be a carrier for two or more conditions.<br>\n          Carriers usually do not exhibit symptoms of the disease. However, if both copies of the chromosome show mutations, the possibility that the subject is currently affected or may develop symptoms in the future cannot be ruled out.<br>\n          <br>\n          B: For X-Linked Inherited Conditions:<br>\n          B-1: &#8220;No clinically significant variants detected&#8221;<br>\n          Indicates that no hereditary variants were found. If the subject is male, this suggests he is unaffected; if female, it indicates a low likelihood of being a carrier, though it cannot be completely ruled out.<br>\n          B-2: &#8220;Clinically significant variant(s) detected&#8221;:<br>\n          Indicates that a genetic alteration was identified. Female subjects may be carriers.<br>\n          If the subject is male, this indicates that he is currently affected or has the potential to develop the disease in the future. However, because conditions in this panel vary in severity, clinical symptoms may not manifest.<br>\n          The purpose of the assay is to detect all variants associated with the covered genes by targeting all coding exons, MANE and\/or canonical transcripts, and 10 bp of flanking intronic sequences.<br>\n          Variants outside the target regions are not intended to be detected by this assay.<br>\n          Unless explicitly stated otherwise, sequence changes (SNVs and indels) in promoter regions and other non-coding regions are not detected by this assay.<br>\n          Specific sequence changes (SNVs and indels) in non-coding regions deemed clinically significant for the detected genes are included in the analysis.<br>\n          If two variants are identified in a single gene, this test cannot distinguish whether they reside on the same chromosome (cis) or on opposite chromosomes (trans).<br>\n          Genetic alterations such as inversions, rearrangements, polyploidy, and epigenetic modifications are not targeted by this test.<br>\n          Specific sequence alterations (SNVs and indels) in target regions with repetitive sequences, highly homologous sequences such as segmental duplications and pseudogenes, as well as high\/low GC-content regions may not be detected.<br>\n          Copy Number Variations (CNVs) are calculated using uniquely mapped, high-quality sequencing reads while avoiding duplicates.<br>\n          Using GC-content normalization and depth-of-sequencing coverage approaches, CNVs are detected for a subset of the target regions.<br>\n          A CNV abnormality is identified when the observed coverage deviates significantly from the expected coverage derived from baseline references.<br>\n          CNV detection is capable down to a resolution of a few exons.<br>\n          If a positive CNV is detected, it is confirmed using orthogonal methods.<br>\n          CNVs cannot be reliably detected in genomic regions containing poorly mapped areas, repetitive sequences, pseudogenes, or extreme GC content.<br><br>\n          <span class=\"bold\">Because CNV detection using NGS has lower sensitivity and specificity compared to orthogonal quantitative methods, the absence of a reported CNV does not guarantee that no CNVs exist.<\/span><br>\n          The absence of disease-causing variants in the targeted genes reduces the likelihood of disease but does not completely eliminate the possibility of disease-related syndromes.<br>\n        <\/p>\n      <\/div>\n    <\/div>\n    \n    <div class=\"accordion-wrap\">          \n      <div class=\"accordion-button\">\n        <p>Additional Information &#038; Disclosures<\/p>\n      <\/div>\n      <div class=\"accordion-text\">\n        <p>\n          The test may not identify all variants associated with the analyzed conditions.<br>\n          <span class=\"bold\">Although this test is highly accurate, the possibility of false-positive or false-negative results still exists and may be caused by technical or biological limitations.<\/span><br>\n          These include rare genetic variants, mosaicism, blood transfusions, bone marrow transplants, or other rare molecular events.<br>\n          Some unexamined genetic alterations may lead to disease conditions and are not tested by this carrier screening test.<br>\n          Although genetic testing is a crucial part of the diagnostic process, it does not always yield definitive answers. In some cases, a genetic variant may be present even if the test fails to identify it.<br>\n          This stems from current limitations in medical knowledge or laboratory technology.<br>\n          It is recommended to use this test concurrently with other clinical data and findings.<br>\n          Results should always be considered in the context of broader clinical findings.<br>\n          The referring clinician is responsible for pre- and post-test counseling, including advising on the necessity of any additional genetic testing.<br>\n          Other diagnostic procedures or tests may be necessary in some instances.\n        <\/p>\n      <\/div>\n    <\/div>\n  <\/div>\n<\/section>\n\n<style>\n.about-231 .accordion-wrap{\n  margin-bottom: 15px;\n}\n.about-231 .accordion-button p{\n  padding: 15px;\n  background-color: #f3e2e9;\n  border: 1px solid #e54c84;\n  position: relative;\n}\n.about-231 .accordion-button p:after{\n  content: '';\n  width: 10px;\n  height: 10px;\n  border-top: solid 2px #e54c84;\n  border-right: solid 2px #e54c84;\n  position: absolute;\n  right: 15px;\n  top: 35%;\n  transform: rotate(135deg);\n}\n.about-231 ul{\n  list-style: none;\n  padding: 0 0 20px;\n}\n.accordion-text{\n  display: none;\n}\n<\/style>\n\n\n\n<div class=\"kanshu-box\" style=\"border:1px solid #e54c84;border-radius:8px;padding:18px 22px;margin:28px auto;background:#fff;max-width:820px;\">\n<p style=\"font-weight:700;color:#e54c84;margin:0 0 8px;\">Supervised By<\/p>\n<p style=\"margin:0;line-height:1.9;\"><strong>Hiroshi Oka, M.D., Ph.D.<\/strong> \/ Executive Medical Director &#038; Lab Director, Hiro Clinic (Fukubukai Medical Corporation)<br>After graduating from Keio University School of Medicine, Dr. Oka passed the medical licensing examinations in both Japan and the United States. Following clinical residency, he earned his Doctorate in Medicine (Ph.D.). Holding a certified Lab Director credential\u2014a distinction held by only about 20 individuals in Japan\u2014he is dedicated to prenatal testing and genetic counseling in close collaboration with specialists in obstetrics, gynecology, pediatrics, and clinical genetics.<\/p>\n<\/div>\n\n\n\n<section class=\"lp-faq\" style=\"max-width:820px;margin:32px auto;\">\n<h2 style=\"border-bottom:2px solid #e54c84;padding-bottom:8px;\">Frequently Asked Questions<\/h2>\n<div style=\"border:1px solid #f2c4d2;border-radius:8px;padding:16px 20px;margin-bottom:12px;background:#fff9fb;\">\n<p style=\"font-weight:700;margin:0 0 6px;color:#e54c84;\">Q. What is a &#8220;carrier&#8221;?<\/p>\n<p style=\"margin:0;\">A carrier is a person who has a genetic mutation but exhibits no symptoms. As long as one copy of the gene is normal, the disorder will not develop. In Japan, approximately 70% of people are estimated to be carriers of at least one condition.<\/p>\n<\/div>\n<div style=\"border:1px solid #f2c4d2;border-radius:8px;padding:16px 20px;margin-bottom:12px;background:#fff9fb;\">\n<p style=\"font-weight:700;margin:0 0 6px;color:#e54c84;\">Q. Why do both partners need to undergo testing together?<\/p>\n<p style=\"margin:0;\">Recessive genetic disorders present a risk to the child when both the mother and father carry a mutation in the same gene. Because results from only one parent are insufficient to evaluate risk, undergoing couple\/pair testing together is crucial.<\/p>\n<\/div>\n<div style=\"border:1px solid #f2c4d2;border-radius:8px;padding:16px 20px;margin-bottom:12px;background:#fff9fb;\">\n<p style=\"font-weight:700;margin:0 0 6px;color:#e54c84;\">Q. When will I receive my results?<\/p>\n<p style=\"margin:0;\">Results will be reported via email approximately 3 weeks after the collected sample arrives at the laboratory. This report is delivered separately from <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> (blood draw) results.<\/p>\n<\/div>\n<div style=\"border:1px solid #f2c4d2;border-radius:8px;padding:16px 20px;margin-bottom:12px;background:#fff9fb;\">\n<p style=\"font-weight:700;margin:0 0 6px;color:#e54c84;\">Q. What should we do if a high risk is identified?<\/p>\n<p style=\"margin:0;\">Amniocentesis may be recommended as a diagnostic confirmatory test. By enrolling in our Amniocentesis Support program, you can receive up to \u00a5300,000 (tax included) in subsidies depending on your plan.<\/p>\n<\/div>\n<div style=\"border:1px solid #f2c4d2;border-radius:8px;padding:16px 20px;margin-bottom:12px;background:#fff9fb;\">\n<p style=\"font-weight:700;margin:0 0 6px;color:#e54c84;\">Q. Can I take this test alongside <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>?<\/p>\n<p style=\"margin:0;\">Yes, they can be combined. For patients undergoing <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, Carrier Screening Test 228 is offered at a discounted optional price. Those who are not undergoing <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> can also take this test as a standalone option.<\/p>\n<\/div>\n<div style=\"border:1px solid #f2c4d2;border-radius:8px;padding:16px 20px;margin-bottom:12px;background:#fff9fb;\">\n<p style=\"font-weight:700;margin:0 0 6px;color:#e54c84;\">Q. Is the test painful?<\/p>\n<p style=\"margin:0;\">No. The sample is collected simply by gently swabbing the inside of the cheek (buccal mucosa) with a dedicated kit. Since no blood sampling or needles are used, the test is completely painless.<\/p>\n<\/div>\n<\/section>\n<script type=\"application\/ld+json\">\n{\"@context\":\"https:\/\/schema.org\",\"@type\":\"FAQPage\",\"mainEntity\":[\n{\"@type\":\"Question\",\"name\":\"What is a \u201ccarrier\u201d?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"A carrier is a person who has a genetic mutation but exhibits no symptoms. As long as one copy of the gene is normal, the disorder will not develop. In Japan, approximately 70% of people are estimated to be carriers of at least one condition.\"}},\n{\"@type\":\"Question\",\"name\":\"Why do both partners need to undergo testing together?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"Recessive genetic disorders present a risk to the child when both the mother and father carry a mutation in the same gene. Because results from only one parent are insufficient to evaluate risk, undergoing couple\/pair testing together is crucial.\"}},\n{\"@type\":\"Question\",\"name\":\"When will I receive my results?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"Results will be reported via email approximately 3 weeks after the collected sample arrives at the laboratory. This report is delivered separately from NIPT (blood draw) results.\"}},\n{\"@type\":\"Question\",\"name\":\"What should we do if a high risk is identified?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"Amniocentesis may be recommended as a diagnostic confirmatory test. By enrolling in our Amniocentesis Support program, you can receive up to \u00a5300,000 (tax included) in subsidies depending on your plan.\"}},\n{\"@type\":\"Question\",\"name\":\"Can I take this test alongside NIPT?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"Yes, they can be combined. For patients undergoing NIPT, Carrier Screening Test 228 is offered at a discounted optional price. Those who are not undergoing NIPT can also take this test as a standalone option.\"}},\n{\"@type\":\"Question\",\"name\":\"Is the test painful?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"No. The sample is collected simply by gently swabbing the inside of the cheek (buccal mucosa) with a dedicated kit. Since no blood sampling or needles are used, the test is completely painless.\"}}\n]}\n<\/script>\n\n\n\n<div class=\"guide-links\" style=\"border:2px dashed #fdb0bc;border-radius:8px;padding:20px 24px;margin:28px auto;background:#fff9fb;max-width:820px;\">\n<p style=\"font-weight:700;font-size:1.15rem;color:#e54c84;margin:0 0 12px;text-align:center;\">Please Feel Free to Consult Us First<\/p>\n<p style=\"margin:0 0 14px;\">If you are unsure which test is right for you, please try our Plan Finder tool or free consultation service. We can also guide you on couple testing and combining screening with <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>.<\/p>\n<ul style=\"list-style:none;padding:0;margin:0;line-height:2.1;\">\n<li>\u25b6 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/plan-finder\/\">Find the Right Plan for You (Plan Finder)<\/a><\/li>\n<li>\u25b6 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/line-registration\/\">Free Consultation via LINE<\/a><\/li>\n<li>\u25b6 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/plan\/option\/\">View Optional Pricing for Carrier Screening Test 228<\/a><\/li>\n<li>\u25b6 Phone Consultation: <a href=\"tel:0120-169-629\">0120-169-629<\/a> (During business hours)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<style>\n    #main_col .post_main_title {\n        display: none !important;\n    }\n\n    @media (min-width: 771px) {\n        .new-accordion .pagein_cta_button .reservation_button {\n            right: 40px;\n            padding: 0;\n            max-width: 220px;\n        }\n    }\n<\/style>\n\n\n\n<script type='text\/javascript' src='https:\/\/ajax.googleapis.com\/ajax\/libs\/jquery\/3.5.1\/jquery.min.js'>  <\/script>\n  <script>\n  \/\/ Accordion Jquery \n\n jQuery(function($) {\n  $('.accordion-button').on('click', function() {\n    if ($(this).siblings('.accordion-text').css('display') == 'none') {\n      $(this).addClass('open');\n      $(this).siblings('.accordion-text').slideDown();\n      $(this).find('.material-symbols-outlined').html('remove');\n    } else {\n      $(this).removeClass('open');\n      $(this).siblings('.accordion-text').slideUp();\n      $(this).find('.material-symbols-outlined').html('add');\n    }\n  });\n});\n  <\/script>\n\n\n\n<div class=\"newcta\">\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\n  <p class=\"jisseki mincho\">Our <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Track Record <span class=\"big\">Over 75,000<span> cases<\/span><\/span><\/p>\n  <p class=\"res-btn\">Check Availability &#038; Book Now<\/p>\n <\/a>\n<\/div>\n<style>\n.newcta{\n  margin:1rem auto 2rem;\n}\n.newcta a{\n  width:100%;\n  max-width:500px;\n  margin:0 auto;\n  display:block;\n  text-decoration:none;\n  text-align:center;\n}\n.newcta p{\n  margin:0 auto;\n}\n.newcta .jisseki{\n  margin:0 auto;\n  position:relative;\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\n  -webkit-background-clip: text;\n  color: rgba(0,0,0,0);\n  font-weight:bold;\n  display:inline-flex;\n  flex-wrap:wrap;\n  align-items:center;\n  justify-content:center;\n  gap:.5rem;\n  padding-bottom:1rem;\n}\n.newcta .jisseki span{\n  font-size:2rem;\n}\n.newcta .jisseki span span{\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n}\n.newcta .res-btn{\n  display:inline-block;\n  background:#f0a3b8;\n  padding:1.5rem 2rem;\n  text-align:center;\n  border-radius:1rem;\n  box-shadow:0 .5rem .5rem #f0a3b866;\n  color:#fff;\n  font-size:1.2rem;\n  font-weight:bold;\n  letter-spacing:.2rem;\n  min-width:320px;\n}\n@media screen and (max-width:500px){\n  .newcta .jisseki .big{\n    width:100%;\n  }\n  .newcta .res-btn{\n    padding:1.5rem 0;\n  }\n}\n<\/style>\n<div class=\"old-cta\">\n<div class=\"container\" style=\"padding:10px\">\n<div class=\"nipt-bnr mincho\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\n<p class=\"jisseki font-s gothic\">Our <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Track Record<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span> cases<\/p>\n<p class=\"res font-s gothic\">Book an Appointment \u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\n<\/a>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\n <div class=\"image-text-block\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/20th-anniversary\/\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-en-1.webp\" style=\"width:100%\"><\/a>\n <\/div>\n<\/div>\n<style>\n.old-cta{\n  display:none;\n}\n.nipt-bnr{\n  display:flex;\n  justify-content:center;\n  align-items:center;\n  width:calc(100% - 3rem);\n  min-width:350px;\n  max-width:480px;\n  aspect-ratio:11 \/ 5;\n  position:relative;\n  margin:1rem auto;\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\n  border-radius:8px;\n  box-shadow:6px 6px 6px #999;\n}\n.nipt-bnr .gold{\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\n  -webkit-background-clip: text;\n  -webkit-text-fill-color: transparent;\n  font-weight:bold;\n}\n.cta-btn-nipt-reservation-wimg{\n  text-decoration:none;\n  border-bottom:initial;\n}\n.label-link {\n  align-items: center;\n  text-decoration: none;\n  gap: 8px;\n}\n.image-text-block {\n  text-align: center;\n}\n.tittle_price{\n font-weight:900;\n font-size:2rem;\n color:#e54c84;\n text-align:center;\n border-bottom:none;\n margin-bottom:-10px;\n}\n.box_11 {\n  width: 12px;\n  height: 12px;\n  background-color: #e54c84;\n  border-radius: 2px;\n  flex-shrink: 0;\n}\n.center-container {\n  text-align: center;\n}\n.label-box{\ndisplay:block;\nfont-size:1.3rem !important;\nfont-weight:900;\ncolor:#e54c84;\ntext-align:right;\n}\n<\/style>\n\n\n","protected":false},"excerpt":{"rendered":"What You Will Learn on This Page What a &#8220;carrier&#8221; is and why approximately 70% of people fall into this&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/nipt\/autosomal-recessive-inheritance\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":80,"featured_media":0,"parent":29825,"menu_order":126,"comment_status":"closed","ping_status":"closed","template":"page_wide.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-70615","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/wp-json\/wp\/v2\/pages\/70615","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/wp-json\/wp\/v2\/users\/80"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/wp-json\/wp\/v2\/comments?post=70615"}],"version-history":[{"count":47,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/wp-json\/wp\/v2\/pages\/70615\/revisions"}],"predecessor-version":[{"id":137383,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/wp-json\/wp\/v2\/pages\/70615\/revisions\/137383"}],"up":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/wp-json\/wp\/v2\/pages\/29825"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/en\/wp-json\/wp\/v2\/media?parent=70615"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}