{"id":125723,"date":"2026-03-13T16:51:00","date_gmt":"2026-03-13T07:51:00","guid":{"rendered":"https:\/\/nipt-bgi-wp.hiro-test.net\/nipt\/?page_id=125723"},"modified":"2026-04-14T17:42:12","modified_gmt":"2026-04-14T08:42:12","slug":"nipty-mono","status":"publish","type":"page","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipty-mono\/","title":{"rendered":"NIPTy-MONO(\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3)"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">200\u7a2e\u985e\u4ee5\u4e0a\u306e\u75be\u60a3\u3092\u30ab\u30d0\u30fc\u3059\u308b\u300c\u5358\u4e00\u907a\u4f1d\u5b50NIPT\u300d<\/h2>\n\n\n\n<p>\u300c\u8fd1\u5e74\u3001\u51fa\u7523\u5e74\u9f62\u306e\u9ad8\u9f62\u5316\u304c\u9032\u3080\u4e2d\u3067\u3001\u304a\u6bcd\u69d8\u306e\u5e74\u9f62\u3060\u3051\u3067\u306a\u304f\u3001\u304a\u7236\u69d8\u306e\u5e74\u9f62\u306b\u8d77\u56e0\u3059\u308b\u907a\u4f1d\u7684\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u3082\u95a2\u5fc3\u304c\u9ad8\u307e\u3063\u3066\u3044\u307e\u3059\u3002\u5f53\u9662\u3067\u306f\u3001\u3088\u308a\u5e83\u7bc4\u56f2\u306a\u5b89\u5fc3\u3092\u304a\u5c4a\u3051\u3059\u308b\u305f\u3081\u306b\u3001\u6700\u65b0\u306e\u89e3\u6790\u6280\u8853\u3092\u7528\u3044\u305f\u5358\u4e00\u907a\u4f1d\u5b50NIPT\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u300d<\/p>\n\n\n\n<p>\u5f93\u6765\u306eNIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306f\u3001\u4e3b\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u5019\u7fa4\u306a\u3069\u306e\u300c\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u300d\u3092\u8abf\u3079\u308b\u3082\u306e\u3067\u3057\u305f\u3002 \u5f53\u9662\u3067\u5c0e\u5165\u3057\u3066\u3044\u308b<strong>\u5358\u4e00\u907a\u4f1d\u5b50NIPT<\/strong>\u306f\u3001\u3055\u3089\u306b\u4e00\u6b69\u9032\u307f\u3001\u907a\u4f1d\u5b50\u306e\u5fae\u7d30\u306a\u300c\u66f8\u304d\u63db\u308f\u308a\u300d\u306b\u3088\u3063\u3066\u8d77\u3053\u308b200\u7a2e\u985e\u4ee5\u4e0a\u306e\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\uff08\u9855\u6027\u907a\u4f1d\u75be\u60a3\uff09\u3092\u3001\u304a\u6bcd\u3055\u3093\u306e\u63a1\u8840\u306e\u307f\u3067\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u306a\u305c\u3001\u5358\u4e00\u907a\u4f1d\u5b50NIPT\u304c\u91cd\u8981\u306a\u306e\u304b\uff1f<\/h3>\n\n\n\n<p>\u300c\u5bb6\u65cf\u306b\u907a\u4f1d\u75c5\u306e\u4eba\u306f\u3044\u306a\u3044\u304b\u3089\u5927\u4e08\u592b\u300d\u3068\u601d\u308f\u308c\u304c\u3061\u3067\u3059\u304c\u3001\u5b9f\u306f\u3053\u3053\u304c\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002\u5358\u4e00\u907a\u4f1d\u5b50NIPT\u3067\u691c\u51fa\u3055\u308c\u308b\u75be\u60a3\u306e\u591a\u304f\u306f\u3001\u4e21\u89aa\u304b\u3089\u5f15\u304d\u7d99\u3050\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u8d64\u3061\u3083\u3093\u306e\u4ee3\u3067\u65b0\u3057\u304f\u767a\u751f\u3059\u308b\u300c\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u300d\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u691c\u67fb\u306e3\u3064\u306e\u7279\u5fb4<\/h3>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>200\u7a2e\u985e\u4ee5\u4e0a\u306e\u5e83\u7bc4\u306a\u75be\u60a3\u3092\u30ab\u30d0\u30fc<\/strong> \u9aa8\u683c\u306e\u5f62\u6210\u3001\u5fc3\u81d3\u306e\u69cb\u9020\u3001\u795e\u7d4c\u767a\u9054\u306b\u95a2\u308f\u308b\u75be\u60a3\u306a\u3069\u3001\u5f93\u6765\u306eNIPT\u3067\u306f\u5206\u304b\u3089\u306a\u304b\u3063\u305f\u591a\u304f\u306e\u75be\u60a3\uff08\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u3001\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u306a\u3069\uff09\u3092\u5bfe\u8c61\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u304a\u7236\u69d8\u306e\u5e74\u9f62\u306b\u3088\u308b\u30ea\u30b9\u30af\u306b\u5bfe\u5fdc<\/strong> \u67d3\u8272\u4f53\u306e\u5909\u5316\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u306a\u3069\uff09\u304c\u304a\u6bcd\u69d8\u306e\u5e74\u9f62\u3068\u95a2\u9023\u304c\u6df1\u3044\u306e\u306b\u5bfe\u3057\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u7a81\u7136\u5909\u7570\u306f\u300c\u304a\u7236\u69d8\u306e\u5e74\u9f62\u300d\u304c\u4e0a\u304c\u308b\u306b\u3064\u308c\u3066\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8d64\u3061\u3083\u3093\u3078\u306e\u30ea\u30b9\u30af\u304c\u30bc\u30ed\uff08\u975e\u4fb5\u8972\u7684\uff09<\/strong> \u304a\u6bcd\u69d8\u306e\u8155\u304b\u3089\u306e\u63a1\u8840\u306e\u307f\u3067\u884c\u3048\u308b\u305f\u3081\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u306e\u30ea\u30b9\u30af\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u598a\u5a20\u521d\u671f\uff0810\u9031\u301c\uff09\u304b\u3089\u53d7\u691c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\">\u5bfe\u8c61\u3068\u306a\u308b\u4e3b\u306a\u75be\u60a3<\/h3>\n\n\n\n<p>\u5f53\u9662\u3067\u306f\u3001\u91cd\u75c7\u5ea6\u3084\u983b\u5ea6\u3092\u8003\u616e\u3057\u305f200\u9805\u76ee\u4ee5\u4e0a\u306e\u75be\u60a3\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u30fb\u8edf\u9aa8\u306e\u75be\u60a3\uff1a<\/strong> \u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u3001\u6210\u9aa8\u4e0d\u5168\u75c7\u306a\u3069<\/li>\n\n\n\n<li><strong>\u767a\u9054\u30fb\u75c7\u5019\u7fa4\uff1a<\/strong> \u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u3001\u30ec\u30c3\u30c6\u30a3\u75c7\u5019\u7fa4\u306a\u3069<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u91cd\u7be4\u306a\u9855\u6027\u907a\u4f1d\u75be\u60a3<\/strong><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td>\u75be\u60a3<\/td><td>\u907a\u4f1d\u5b50<\/td><td>\u30ea\u30f3\u30af<\/td><\/tr><tr><td>Achondrogenesis, type II or hypochondrogenesis<\/td><td>COL2A1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achondrogenesis-type2-hypochondrogenesis\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/achondrogenesis-type2-hypochondrogenesis\/<\/a><\/td><\/tr><tr><td>\u8edf\u9aa8\u7121\u5f62\u6210\u75c7<\/td><td>FGFR3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achondroplasia-causes-symptoms-treatment\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/achondroplasia-causes-symptoms-treatment\/<\/a><\/td><\/tr><tr><td>Acrodysostosis 1, with or without Hormone Resistance<\/td><td>PRKAR1A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance\/<\/a><\/td><\/tr><tr><td>Alagille Syndrome 1<\/td><td>JAG1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/<\/a><\/td><\/tr><tr><td>Alagille Syndrome 2<\/td><td>NOTCH2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/<\/a><\/td><\/tr><tr><td>Alexander Disease<\/td><td>GFAP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/<\/a><\/td><\/tr><tr><td>Alternating Hemiplegia of Childhood 1<\/td><td>ATP1A2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alternating-hemiplegia-childhood-1\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/alternating-hemiplegia-childhood-1\/<\/a><\/td><\/tr><tr><td>Andersen syndrome<\/td><td>KCNJ2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/andersen-tawil-syndrome-kcnj2\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/andersen-tawil-syndrome-kcnj2\/<\/a><\/td><\/tr><tr><td>Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis<\/td><td>FGFR2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/antley-bixler-syndrome-fgfr2-variant\/<\/a><\/td><\/tr><tr><td>Apert syndrome<\/td><td>FGFR2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/apert-syndrome-fgfr2-craniosynostosis-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/apert-syndrome-fgfr2-craniosynostosis-guide\/<\/a><\/td><\/tr><tr><td>Atelosteogenesis, type I<\/td><td>FLNB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-1-flnb-mutation\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-1-flnb-mutation\/<\/a><\/td><\/tr><tr><td>Atelosteogenesis, type III<\/td><td>FLNB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-3-flnb-clinical-management\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/atelosteogenesis-type-3-flnb-clinical-management\/<\/a><\/td><\/tr><tr><td>Au-Kline Syndrome<\/td><td>HNRNPK<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/au-kline-syndrome-hnrnpk-genetic-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/au-kline-syndrome-hnrnpk-genetic-guide\/<\/a><\/td><\/tr><tr><td>Autosomal Dominant Mental Retardation 14<\/td><td>ARID1A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/<\/a><\/td><\/tr><tr><td>Autosomal Dominant Mental Retardation 15<\/td><td>SMARCB1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/<\/a><\/td><\/tr><tr><td>Autosomal Dominant Mental Retardation 16<\/td><td>SMARCA4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-16-tbc1d24\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-16-tbc1d24\/<\/a><\/td><\/tr><tr><td>Autosomal Dominant Mental Retardation 28<\/td><td>ADNP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-28-ddx3x\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-28-ddx3x\/<\/a><\/td><\/tr><tr><td>Bainbridge-Ropers Syndrome<\/td><td>ASXL3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Baraitser-Winter syndrome 1<\/td><td>ACTB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/<\/a><\/td><\/tr><tr><td>Baraitser-Winter syndrome 2<\/td><td>ACTG1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-2-actg1-genetics-symptoms\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-2-actg1-genetics-symptoms\/<\/a><\/td><\/tr><tr><td>Beare-Stevenson Cutis Gyrata syndrome<\/td><td>FGFR2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/beare-stevenson-cutis-gyrata-syndrome-fgfr2-symptoms-management\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/beare-stevenson-cutis-gyrata-syndrome-fgfr2-symptoms-management\/<\/a><\/td><\/tr><tr><td>Bent Bone Dysplasia Syndrome<\/td><td>FGFR2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/<\/a><\/td><\/tr><tr><td>Blepharophimosis-impaired intellectual development syndrome<\/td><td>SMARCA2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/<\/a><\/td><\/tr><tr><td>Bohring-Opitz Syndrome<\/td><td>ASXL1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/<\/a><\/td><\/tr><tr><td>Boomerang dysplasia<\/td><td>FLNB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/<\/a><\/td><\/tr><tr><td>Bosch-Boonstra-Schaaf Optic Atrophy Syndrome<\/td><td>NR2F1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bbsoas-optic-atrophy-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/bbsoas-optic-atrophy-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Campomelic Dysplasia<\/td><td>SOX9<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/campomelic-dysplasia-sox9-genetic-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/campomelic-dysplasia-sox9-genetic-guide\/<\/a><\/td><\/tr><tr><td>Cardiac, Facial, and Digital Anomalies with Developmental Delay<\/td><td>TRAF7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cafdadd-syndrome-traf7-genetic-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cafdadd-syndrome-traf7-genetic-guide\/<\/a><\/td><\/tr><tr><td>Cardiofaciocutaneous Syndrome<\/td><td>BRAF<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-cfc-rasopathy-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-cfc-rasopathy-guide\/<\/a><\/td><\/tr><tr><td>Cardiofaciocutaneous Syndrome 2<\/td><td>KRAS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/<\/a><\/td><\/tr><tr><td>Cardiofaciocutaneous Syndrome 3<\/td><td>MAP2K1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/<\/a><\/td><\/tr><tr><td>Cardiofaciocutaneous Syndrome 4<\/td><td>MAP2K2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-4-map2k2-genetic-insights\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-4-map2k2-genetic-insights\/<\/a><\/td><\/tr><tr><td>Cerebellar dysfunction with variable cognitive and behavioral abnormalities<\/td><td>CAMTA1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cerebellar-dysfunction-cognitive-behavioral-abnormalities-insights\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cerebellar-dysfunction-cognitive-behavioral-abnormalities-insights\/<\/a><\/td><\/tr><tr><td>CHARGE syndrome<\/td><td>CHD7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/charge-syndrome-chd7-clinical-features-management\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/charge-syndrome-chd7-clinical-features-management\/<\/a><\/td><\/tr><tr><td>CHILD syndrome<\/td><td>NSDHL<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/child-syndrome-nscdl-genetics-clinical-review\/<\/a><\/td><\/tr><tr><td>Chitayat syndrome<\/td><td>ERF<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/<\/a><\/td><\/tr><tr><td>Chondrodysplasia punctata, X-linked dominant<\/td><td>EBP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/<\/a><\/td><\/tr><tr><td>Cleidocranial dysplasia<\/td><td>RUNX2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cleidocranial-dysplasia-symptoms-genetics-dental-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cleidocranial-dysplasia-symptoms-genetics-dental-guide\/<\/a><\/td><\/tr><tr><td>Coffin-Lowry Syndrome<\/td><td>RPS6KA3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-lowry-syndrome-rps6ka3-symptoms-diagnosis-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-lowry-syndrome-rps6ka3-symptoms-diagnosis-guide\/<\/a><\/td><\/tr><tr><td>Coffin-Siris syndrome 1<\/td><td>ARID1B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-siris-syndrome-arid1b-genetics-diagnosis-management\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-siris-syndrome-arid1b-genetics-diagnosis-management\/<\/a><\/td><\/tr><tr><td>Coffin-Siris Syndrome 5<\/td><td>SMARCE1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-siris-syndrome-5-smarce1-genetics-symptoms-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-siris-syndrome-5-smarce1-genetics-symptoms-guide\/<\/a><\/td><\/tr><tr><td>Cognitive Impairment With Or Without Cerebellar Ataxia<\/td><td>SCN8A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/<\/a><\/td><\/tr><tr><td>Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental delay<\/td><td>NALCN<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-contractures-limbs-face-hypotonia-developmental-delay-guide\/<\/a><\/td><\/tr><tr><td>Cornelia de Lange syndrome 1<\/td><td>NIPBL<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-1-nipl-genetics-symptoms-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-1-nipl-genetics-symptoms-guide\/<\/a><\/td><\/tr><tr><td>Cornelia de Lange syndrome 2<\/td><td>SMC1A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-2-smc1a-genetics-x-linked-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-2-smc1a-genetics-x-linked-guide\/<\/a><\/td><\/tr><tr><td>Cornelia de Lange syndrome 3<\/td><td>SMC3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/<\/a><\/td><\/tr><tr><td>Cornelia de Lange syndrome 4<\/td><td>RAD21<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-4-rad21-genetics-non-classic-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-4-rad21-genetics-non-classic-guide\/<\/a><\/td><\/tr><tr><td>Cornelia de Lange syndrome 5<\/td><td>HDAC8<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-5-hdac8-genetics-x-linked-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-5-hdac8-genetics-x-linked-guide\/<\/a><\/td><\/tr><tr><td>Cortical Dysplasia, Complex, with Other Brain Malformations 5<\/td><td>TUBB2A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/<\/a><\/td><\/tr><tr><td>Cortical Dysplasia, Complex, with Other Brain Malformations 6<\/td><td>TUBB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-6-zic1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-6-zic1-guide\/<\/a><\/td><\/tr><tr><td>Costello Syndrome<\/td><td>HRAS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/costello-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/costello-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Craniofrontonasal dysplasia<\/td><td>EFNB1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/craniofrontonasal-dysplasia-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/craniofrontonasal-dysplasia-guide\/<\/a><\/td><\/tr><tr><td>Craniosynostosis 1<\/td><td>TWIST1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/craniosynostosis-1-saethre-chotzen-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/craniosynostosis-1-saethre-chotzen-guide\/<\/a><\/td><\/tr><tr><td>Craniosynostosis 2<\/td><td>MSX2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/craniosynostosis-2-msx2-boston-type-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/craniosynostosis-2-msx2-boston-type-guide\/<\/a><\/td><\/tr><tr><td>Craniosynostosis 4<\/td><td>ERF<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/craniosynostosis-4-erf-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/craniosynostosis-4-erf-guide\/<\/a><\/td><\/tr><tr><td>Crouzon syndrome<\/td><td>FGFR2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/crouzon-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/crouzon-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Crouzon syndrome with acanthosis nigricans<\/td><td>FGFR3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/crouzon-syndrome-acanthosis-nigricans-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/crouzon-syndrome-acanthosis-nigricans-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 11<\/td><td>SCN2A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-11-scn2a-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-11-scn2a-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 13<\/td><td>SCN8A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-13-scn8a-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-13-scn8a-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 14<\/td><td>KCNT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-14-kcnt1-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 17<\/td><td>GNAO1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 19<\/td><td>GABRA1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 2<\/td><td>CDKL5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-2-cdkl5-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-2-cdkl5-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 26<\/td><td>KCNB1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 27<\/td><td>GRIN2B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-27-grin2b-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-27-grin2b-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 31<\/td><td>DNM1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-31-dnm1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-31-dnm1-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 4<\/td><td>STXBP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-4-stxbp1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-4-stxbp1-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 42<\/td><td>CACNA1A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-42-cacna1a-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-42-cacna1a-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 5<\/td><td>SPTAN1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-5-sptan1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-5-sptan1-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 54<\/td><td>HNRNPU<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 6B, non-Dravet<\/td><td>SCN1A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-6b-nondravet-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-6b-nondravet-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 7<\/td><td>KCNQ2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-7-kcnq2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-7-kcnq2-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 92<\/td><td>GABRB2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-92-gabra5-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-92-gabra5-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 94<\/td><td>CHD2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-94-chd2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-94-chd2-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 98<\/td><td>ATP1A2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-98-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-98-guide\/<\/a><\/td><\/tr><tr><td>Developmental and epileptic encephalopathy 99<\/td><td>ATP1A3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-99-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-99-guide\/<\/a><\/td><\/tr><tr><td>Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities<\/td><td>SRCAP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ebf3-hadds-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/ebf3-hadds-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Dias-Logan syndrome<\/td><td>BCL11A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dias-logan-syndrome-bcl11a-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/dias-logan-syndrome-bcl11a-guide\/<\/a><\/td><\/tr><tr><td><strong><a target=\"_blank\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\" rel=\"noreferrer noopener\">Early<\/a><\/strong><strong> Infantile Epileptic Encephalopathy 6<\/strong><\/td><td>SCN1A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/eiee6-dravet-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/eiee6-dravet-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Epiphyseal dysplasia, multiple, 1<\/td><td>COMP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/epiphyseal-dysplasia-multiple-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/epiphyseal-dysplasia-multiple-type1-guide\/<\/a><\/td><\/tr><tr><td>Epiphyseal dysplasia, multiple, 2<\/td><td>COL9A2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/epiphyseal-dysplasia-multiple-type2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/epiphyseal-dysplasia-multiple-type2-guide\/<\/a><\/td><\/tr><tr><td>Epiphyseal dysplasia, multiple, 3, with or without myopathy<\/td><td>COL9A3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/epiphyseal-dysplasia-multiple-type3-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/epiphyseal-dysplasia-multiple-type3-guide\/<\/a><\/td><\/tr><tr><td>Episodic ataxia, type 9<\/td><td>SCN2A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/episodic-ataxia-type9-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/episodic-ataxia-type9-guide\/<\/a><\/td><\/tr><tr><td>Fibrodysplasia Ossificans Progressiva<\/td><td>ACVR1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/fibrodysplasia-ossificans-progressiva-fop-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/fibrodysplasia-ossificans-progressiva-fop-guide\/<\/a><\/td><\/tr><tr><td>Floating-Harbor Syndrome<\/td><td>SRCAP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/floating-harbor-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/floating-harbor-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Fontaine Progeroid Syndrome<\/td><td>SLC25A24<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/fontaine-progeroid-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/fontaine-progeroid-syndrome-guide\/<\/a><\/td><\/tr><tr><td>GAND syndrome<\/td><td>GATAD2B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Genitopatellar syndrome<\/td><td>KAT6B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genitopatellar-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/genitopatellar-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Glass Syndrome<\/td><td>SATB2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glass-syndrome-satb2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/glass-syndrome-satb2-guide\/<\/a><\/td><\/tr><tr><td>Hajdu-Cheney Syndrome<\/td><td>NOTCH2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hajdu-cheney-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/hajdu-cheney-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Holoprosencephaly Type 2 (HPE2)<\/td><td>SIX3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/holoprosencephaly-type2-hpe2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/holoprosencephaly-type2-hpe2-guide\/<\/a><\/td><\/tr><tr><td>Holt-Oram Syndrome<\/td><td>TBX5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/holt-oram-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/holt-oram-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Hutchinson-Gilford Progeria Syndrome<\/td><td>LMNA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hutchinson-gilford-progeria-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/hutchinson-gilford-progeria-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Hyper-IgE recurrent infection syndrome<\/td><td>STAT3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hyper-ige-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/hyper-ige-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Hypochondroplasia<\/td><td>FGFR3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hypochondroplasia-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/hypochondroplasia-guide\/<\/a><\/td><\/tr><tr><td>Impaired intellectual development and distinctive facial features with or without cardiac defects<\/td><td>MED13L<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia<\/td><td>CASK<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/micpch-guide-symptoms-causes\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/micpch-guide-symptoms-causes\/<\/a><\/td><\/tr><tr><td><strong>\u77e5\u7684\u767a\u9054\u969c\u5bb3\uff08<\/strong><strong><a target=\"_blank\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\" rel=\"noreferrer noopener\">\u81ea\u9589\u75c7<\/a><\/strong><strong>\u3068\u5927\u982d\u75c7\uff09<\/strong><\/td><td>CHD8<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-disorder-autism-macrocephaly-chd8-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-disorder-autism-macrocephaly-chd8-guide\/<\/a><\/td><\/tr><tr><td>\u8a00\u8a9e\u969c\u5bb3\u3092\u4f34\u3046\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td><td>FOXP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/id-with-language-impairment-foxp1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/id-with-language-impairment-foxp1-guide\/<\/a><\/td><\/tr><tr><td>\u77e5\u7684\u767a\u9054\u969c\u5bb3(\u512a\u751f\u907a\u4f1d\uff0913<\/td><td>DYNC1H1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-13-champ1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-13-champ1-guide\/<\/a><\/td><\/tr><tr><td>\u77e5\u7684\u767a\u9054\u969c\u5bb3(\u512a\u751f\u907a\u4f1d\uff09 21<\/td><td>CTCF<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-21-ctbp1-haddts-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-21-ctbp1-haddts-guide\/<\/a><\/td><\/tr><tr><td>\u77e5\u7684\u767a\u9054\u969c\u5bb3(\u512a\u751f\u907a\u4f1d\uff09 23<\/td><td>SETD5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-23-setd5-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-23-setd5-guide\/<\/a><\/td><\/tr><tr><td>\u77e5\u7684\u767a\u9054\u969c\u5bb3(\u512a\u751f\u907a\u4f1d\uff0929<\/td><td>SETBP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-29-setbp1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-29-setbp1-guide\/<\/a><\/td><\/tr><tr><td>\u77e5\u7684\u767a\u9054\u969c\u5bb3(\u512a\u751f\u907a\u4f1d\uff09 35<\/td><td>PPP2R5D<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ntellectual-developmental-disorder-35-ppp2r5d-jordan-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/ntellectual-developmental-disorder-35-ppp2r5d-jordan-syndrome-guide\/<\/a><\/td><\/tr><tr><td>\u77e5\u7684\u767a\u9054\u969c\u5bb3(\u512a\u751f\u907a\u4f1d\uff09 36<\/td><td>PPP2R1A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-36-bcl11a-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-36-bcl11a-guide\/<\/a><\/td><\/tr><tr><td>\u77e5\u7684\u767a\u9054\u969c\u5bb3(\u512a\u751f\u907a\u4f1d\uff09 41<\/td><td>TBL1XR1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-41-trim28-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-41-trim28-guide\/<\/a><\/td><\/tr><tr><td>\u77e5\u7684\u767a\u9054\u969c\u5bb3(\u512a\u751f\u907a\u4f1d\uff09 5<\/td><td>SYNGAP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-5-syngap1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-5-syngap1-guide\/<\/a><\/td><\/tr><tr><td>\u77e5\u7684\u767a\u9054\u969c\u5bb3(\u512a\u751f\u907a\u4f1d\uff09 6<\/td><td>GRIN2B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-6-grik2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-6-grik2-guide\/<\/a><\/td><\/tr><tr><td>\u77e5\u7684\u767a\u9054\u969c\u5bb3(\u512a\u751f\u907a\u4f1d\uff09 7<\/td><td>DYRK1A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-7-dyrk1a-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-7-dyrk1a-guide\/<\/a><\/td><\/tr><tr><td>Jackson-Weiss Syndrome<\/td><td>FGFR1\/FGFR2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jackson-weiss-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/jackson-weiss-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Kabuki Syndrome 1<\/td><td>KMT2D<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/kabuki-syndrome-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/kabuki-syndrome-type1-guide\/<\/a><\/td><\/tr><tr><td>KBG Syndrome<\/td><td>ANKRD11<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/kbg-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/kbg-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Kleefstra Syndrome 1<\/td><td>EHMT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/kleefstra-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/kleefstra-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Koolen-De Vries Syndrome<\/td><td>KANSL1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/koolen-de-vries-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/koolen-de-vries-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Larsen Syndrome<\/td><td>FLNB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/larsen-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/larsen-syndrome-guide\/<\/a><\/td><\/tr><tr><td>LEOPARD syndrome 3<\/td><td>BRAF<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leopard-syndrome-type3-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/leopard-syndrome-type3-guide\/<\/a><\/td><\/tr><tr><td>Leukodystrophy, hypomyelinating, 6<\/td><td>TUBB4A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Lissencephaly 3<\/td><td>TUBA1A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lissencephaly-type3-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/lissencephaly-type3-guide\/<\/a><\/td><\/tr><tr><td>Loeys-Dietz syndrome 1<\/td><td>TGFBR1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/loeys-dietz-syndrome-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/loeys-dietz-syndrome-type1-guide\/<\/a><\/td><\/tr><tr><td>Loeys-Dietz syndrome 2<\/td><td>TGFBR2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/loeys-dietz-syndrome-type2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/loeys-dietz-syndrome-type2-guide\/<\/a><\/td><\/tr><tr><td>Loeys-Dietz syndrome 3<\/td><td>SMAD3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/loeys-dietz-syndrome-type3-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/loeys-dietz-syndrome-type3-guide\/<\/a><\/td><\/tr><tr><td>Loeys-Dietz syndrome 4<\/td><td>TGFB2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/loeys-dietz-syndrome-type4-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/loeys-dietz-syndrome-type4-guide\/<\/a><\/td><\/tr><tr><td>Luscan-Lumish Syndrome<\/td><td>SETD2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/luscan-lumish-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/luscan-lumish-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Mandibulofacial dysostosis, Guion-Almeida type<\/td><td>EFTUD2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mandibulofacial-dysostosis-guion-almeida-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/mandibulofacial-dysostosis-guion-almeida-guide\/<\/a><\/td><\/tr><tr><td>\u30de\u30eb\u30d5\u30a1\u30f3\u75c7\u5019\u7fa4<\/td><td>FBN1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/marfan-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/marfan-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Marshall-Smith syndrome<\/td><td>NFIX<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/marshall-smith-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/marshall-smith-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1<\/td><td>PIK3R2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mpph-syndrome-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/mpph-syndrome-type1-guide\/<\/a><\/td><\/tr><tr><td>Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2<\/td><td>AKT3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mpph-syndrome-type2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/mpph-syndrome-type2-guide\/<\/a><\/td><\/tr><tr><td>Menke-Hennekam syndrome 1<\/td><td>CREBBP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type1-guide\/<\/a><\/td><\/tr><tr><td>Menke-Hennekam syndrome 2<\/td><td>EP300<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type2-guide\/<\/a><\/td><\/tr><tr><td>Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly<\/td><td>RUNX2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Mowat-Wilson syndrome<\/td><td>ZEB2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mowat-wilson-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/mowat-wilson-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Muenke Syndrome<\/td><td>FGFR3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/muenke-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/muenke-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Muscular dystrophy, congenital<\/td><td>LMNA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-muscular-dystrophy-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/congenital-muscular-dystrophy-guide\/<\/a><\/td><\/tr><tr><td>Myhre Syndrome<\/td><td>SMAD4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/myhre-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/myhre-syndrome-guide\/<\/a><\/td><\/tr><tr><td>NESCAV syndrome<\/td><td>KIF1A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nescav-syndrome-kif1a-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/nescav-syndrome-kif1a-guide\/<\/a><\/td><\/tr><tr><td>Neurodegeneration with brain iron accumulation 5<\/td><td>WDR45<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bpan-nbia5-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/bpan-nbia5-guide\/<\/a><\/td><\/tr><tr><td>Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language<\/td><td>MEF2C<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mef2c-related-disorder-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/mef2c-related-disorder-guide\/<\/a><\/td><\/tr><tr><td>Neurodevelopmental disorder with involuntary movements<\/td><td>GNAO1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gnao1-related-neurodevelopmental-disorder-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/gnao1-related-neurodevelopmental-disorder-guide\/<\/a><\/td><\/tr><tr><td>Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties<\/td><td>PURA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/pura-syndrome-nedrihf-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/pura-syndrome-nedrihf-guide\/<\/a><\/td><\/tr><tr><td>Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart<\/td><td>RERE<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rere-related-neurodevelopmental-disorder-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/rere-related-neurodevelopmental-disorder-guide\/<\/a><\/td><\/tr><tr><td>Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant<\/td><td>GRIN1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/grin1-related-neurodevelopmental-disorder-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/grin1-related-neurodevelopmental-disorder-guide\/<\/a><\/td><\/tr><tr><td>Neurodevelopmental disorder with spastic diplegia and visual defects<\/td><td>CTNNB1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nedsdv-ctnnb1-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/nedsdv-ctnnb1-syndrome-guide\/<\/a><\/td><\/tr><tr><td>\u795e\u7d4c\u7e4a\u7dad\u816b\u75c7 1<\/td><td>NF1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/neurofibromatosis-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/neurofibromatosis-type1-guide\/<\/a><\/td><\/tr><tr><td>\u795e\u7d4c\u7e4a\u7dad\u816b\u75c7 2<\/td><td>NF2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/neurofibromatosis-type2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/neurofibromatosis-type2-guide\/<\/a><\/td><\/tr><tr><td>Nicolaides-Baraitser Syndrome<\/td><td>SMARCA2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nicolaides-baraitser-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/nicolaides-baraitser-syndrome-guide\/<\/a><\/td><\/tr><tr><td>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4 1<\/td><td>PTPN11<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type1-ptpn11-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type1-ptpn11-guide\/<\/a><\/td><\/tr><tr><td>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4 10<\/td><td>LZTR1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type10-lztr1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type10-lztr1-guide\/<\/a><\/td><\/tr><tr><td>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4 3<\/td><td>KRAS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type3\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type3\/<\/a><\/td><\/tr><tr><td>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4 4<\/td><td>SOS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type4-sos1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type4-sos1-guide\/<\/a><\/td><\/tr><tr><td>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4 5<\/td><td>RAF1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type5-raf1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type5-raf1-guide\/<\/a><\/td><\/tr><tr><td>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4 6<\/td><td>NRAS<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type6-nras-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type6-nras-guide\/<\/a><\/td><\/tr><tr><td>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4 7<\/td><td>BRAF<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type7-braf-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type7-braf-guide\/<\/a><\/td><\/tr><tr><td>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4 8<\/td><td>RIT1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type8-rit1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type8-rit1-guide\/<\/a><\/td><\/tr><tr><td>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4 9<\/td><td>SOS2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type9-sos1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type9-sos1-guide\/<\/a><\/td><\/tr><tr><td>Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia<\/td><td>CBL<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cbl-related-noonan-like-syndrome-jmml-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/cbl-related-noonan-like-syndrome-jmml-guide\/<\/a><\/td><\/tr><tr><td>Noonan-Like Syndrome with Loose Anagen Hair<\/td><td>SHOC2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-like-syndrome-loose-anagen-hair-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-like-syndrome-loose-anagen-hair-guide\/<\/a><\/td><\/tr><tr><td>Opitz GBBB Syndrome, Type II<\/td><td>SPECC1L<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/opitz-gbbb-syndrome-type2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/opitz-gbbb-syndrome-type2-guide\/<\/a><\/td><\/tr><tr><td>\u9aa8\u7570\u5f62\u6210\u4e0d\u5168\u75c7 type I<\/td><td>COL1A1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-type1-guide\/<\/a><\/td><\/tr><tr><td>\u9aa8\u7570\u5f62\u6210\u4e0d\u5168\u75c7 type II<\/td><td>COL1A1\/COL1A2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-type2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-type2-guide\/<\/a><\/td><\/tr><tr><td>\u9aa8\u7570\u5f62\u6210\u4e0d\u5168\u75c7 type III<\/td><td>COL1A1\/COL1A2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-type3-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-type3-guide\/<\/a><\/td><\/tr><tr><td>\u9aa8\u7570\u5f62\u6210\u4e0d\u5168\u75c7 type IV<\/td><td>COL1A1\/COL1A2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-type4-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-type4-guide\/<\/a><\/td><\/tr><tr><td>\u9aa8\u7570\u5f62\u6210\u4e0d\u5168\u75c7 type V<\/td><td>IFITM5<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-type5-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/osteogenesis-imperfecta-type5-guide\/<\/a><\/td><\/tr><tr><td>Otopalatodigital syndrome, type II<\/td><td>FLNA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/otopalatodigital-syndrome-type2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/otopalatodigital-syndrome-type2-guide\/<\/a><\/td><\/tr><tr><td>Overgrowth syndrome and\/or cerebral malformations<\/td><td>PIK3CA<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/overgrowth-syndrome-cerebral-malformations-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/overgrowth-syndrome-cerebral-malformations-guide\/<\/a><\/td><\/tr><tr><td>Parietal Foramina With Cleidocranial Dysplasia<\/td><td>MSX2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/parietal-foramina-cleidocranial-dysplasia-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/parietal-foramina-cleidocranial-dysplasia-guide\/<\/a><\/td><\/tr><tr><td>Pfeiffer syndrome<\/td><td>FGFR1\/FGFR2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/pfeiffer-syndrome-comprehensive-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/pfeiffer-syndrome-comprehensive-guide\/<\/a><\/td><\/tr><tr><td>Phelan-McDermid Syndrome<\/td><td>SHANK3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/phelan-mcdermid-syndrome-comprehensive-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/phelan-mcdermid-syndrome-comprehensive-guide\/<\/a><\/td><\/tr><tr><td>Pierpont Syndrome<\/td><td>TBL1XR1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/pierpont-syndrome-comprehensive-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/pierpont-syndrome-comprehensive-guide\/<\/a><\/td><\/tr><tr><td>Pitt-Hopkins syndrome<\/td><td>TCF4<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/pitt-hopkins-syndrome-comprehensive-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/pitt-hopkins-syndrome-comprehensive-guide\/<\/a><\/td><\/tr><tr><td>Platyspondylic Lethal Skeletal dysplasia, Torrance type<\/td><td>COL2A1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/platyspondylic-lethal-skeletal-dysplasia-torrance-type-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/platyspondylic-lethal-skeletal-dysplasia-torrance-type-guide\/<\/a><\/td><\/tr><tr><td>Porencephaly 1<\/td><td>COL4A1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/porencephaly-type1-comprehensive-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/porencephaly-type1-comprehensive-guide\/<\/a><\/td><\/tr><tr><td>Primrose syndrome<\/td><td>ZBTB20<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primrose-syndrome-comprehensive-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/primrose-syndrome-comprehensive-guide\/<\/a><\/td><\/tr><tr><td>Pseudoachondroplasia<\/td><td>COMP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/pseudoachondroplasia-comprehensive-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/pseudoachondroplasia-comprehensive-guide\/<\/a><\/td><\/tr><tr><td>Rett syndrome<\/td><td>MECP2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rett-syndrome-comprehensive-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/rett-syndrome-comprehensive-guide\/<\/a><\/td><\/tr><tr><td>Rett syndrome, congenital variant<\/td><td>FOXG1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rett-syndrome-congenital-variant-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/rett-syndrome-congenital-variant-guide\/<\/a><\/td><\/tr><tr><td>Robinow-Sorauf Syndrome<\/td><td>TWIST1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/robinow-sorauf-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/robinow-sorauf-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Rubinstein-Taybi Syndrome 1<\/td><td>CREBBP<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rubinstein-taybi-syndrome-type2-guide-2\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/rubinstein-taybi-syndrome-type2-guide-2\/<\/a><\/td><\/tr><tr><td>Rubinstein-Taybi Syndrome 2<\/td><td>EP300<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rubinstein-taybi-syndrome-type2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/rubinstein-taybi-syndrome-type2-guide\/<\/a><\/td><\/tr><tr><td>SADDAN<\/td><td>FGFR3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Saethre-Chotzen Syndrome<\/td><td>FGFR2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Saethre-Chotzen syndrome with or without eyelid anomalies<\/td><td>TWIST1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/<\/a><\/td><\/tr><tr><td>SBBYSS syndrome<\/td><td>KAT6B<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/<\/a><\/td><\/tr><tr><td>Schinzel-Giedion syndrome<\/td><td>SETBP1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/schinzel-giedion-syndrome-sgs-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/schinzel-giedion-syndrome-sgs-guide\/<\/a><\/td><\/tr><tr><td>Schuurs-Hoeijmakers syndrome<\/td><td>PACS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/schuurs-hoeijmakers-syndrome-pacs1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/schuurs-hoeijmakers-syndrome-pacs1-guide\/<\/a><\/td><\/tr><tr><td>SED congenita<\/td><td>COL2A1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sed-congenita-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/sed-congenita-guide\/<\/a><\/td><\/tr><tr><td>Shprintzen-Goldberg Syndrome<\/td><td>SKI<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/shprintzen-goldberg-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/shprintzen-goldberg-syndrome-guide\/<\/a><\/td><\/tr><tr><td>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4 1<\/td><td>NSD1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sotos-syndrome-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/sotos-syndrome-type1-guide\/<\/a><\/td><\/tr><tr><td>Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant<\/td><td>BICD2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smaled2b-dync1h1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/smaled2b-dync1h1-guide\/<\/a><\/td><\/tr><tr><td>Stickler syndrome, type I<\/td><td>COL2A1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/stickler-syndrome-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/stickler-syndrome-type1-guide\/<\/a><\/td><\/tr><tr><td>Stickler syndrome, type II<\/td><td>COL11A1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/stickler-syndrome-type2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/stickler-syndrome-type2-guide\/<\/a><\/td><\/tr><tr><td>Sweeney-Cox syndrome<\/td><td>TWIST1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sweeney-cox-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/sweeney-cox-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Symmetric circumferential skin creases, congenital, 1<\/td><td>TUBB<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/scsc1-michelin-tire-baby-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/scsc1-michelin-tire-baby-syndrome-guide\/<\/a><\/td><\/tr><tr><td>Thanatophoric Dysplasia, type I<\/td><td>FGFR3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type1-guide\/<\/a><\/td><\/tr><tr><td>Thanatophoric Dysplasia, type II<\/td><td>FGFR3<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-admin\/post.php?post=122379&amp;action=edit&amp;lang=ja\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-admin\/post.php?post=122379&amp;action=edit&amp;lang=ja<\/a><\/td><\/tr><tr><td>Trichorhinophalangeal syndrome, type I<\/td><td>TRPS1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/trps-type1-guide\/<\/a><\/td><\/tr><tr><td>Trigonocephaly 1<\/td><td>FGFR1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trigonocephaly-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/trigonocephaly-type1-guide\/<\/a><\/td><\/tr><tr><td>Trigonocephaly 2<\/td><td>FREM1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trigonocephaly-type2-frem1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/trigonocephaly-type2-frem1-guide\/<\/a><\/td><\/tr><tr><td>\u7d50\u7bc0\u6027\u786c\u5316\u75c7-1<\/td><td>TSC1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/tuberous-sclerosis-complex-type1-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/tuberous-sclerosis-complex-type1-guide\/<\/a><\/td><\/tr><tr><td>\u7d50\u7bc0\u6027\u786c\u5316\u75c7-2<\/td><td>TSC2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/tuberous-sclerosis-complex-type2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/tuberous-sclerosis-complex-type2-guide\/<\/a><\/td><\/tr><tr><td>Visceral myopathy 1<\/td><td>ACTG2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/<\/a><\/td><\/tr><tr><td>Wieacker-Wolff syndrome, female-restricted<\/td><td>ZC4H2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wieacker-wolff-syndrome-zc4h2-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/wieacker-wolff-syndrome-zc4h2-guide\/<\/a><\/td><\/tr><tr><td>Wiedemann-Steiner syndrome<\/td><td>KMT2A<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wiedemann-steiner-syndrome-guide\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.hiro-clinic.or.jp\/nipt\/wiedemann-steiner-syndrome-guide\/<\/a><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">\u6ce8\u610f\u4e8b\u9805<\/h2>\n\n\n\n<p>\u3053\u3061\u3089\u306f\u56fd\u5185\u691c\u67fb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<br>\u6d77\u5916\u306b\u767a\u9001\u3059\u308b\u305f\u3081\u3001\u691c\u67fb\u306b\u304b\u304b\u308b\u6642\u9593\u306f\u63a1\u8840\u304b\u3089\uff13\u9031\u9593\u7a0b\u5ea6\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"200\u7a2e\u985e\u4ee5\u4e0a\u306e\u75be\u60a3\u3092\u30ab\u30d0\u30fc\u3059\u308b\u300c\u5358\u4e00\u907a&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipty-mono\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":84,"featured_media":0,"parent":0,"menu_order":5,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-125723","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/125723","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/84"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=125723"}],"version-history":[{"count":12,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/125723\/revisions"}],"predecessor-version":[{"id":126895,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/125723\/revisions\/126895"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=125723"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}