{"id":17345,"date":"2026-01-22T02:45:45","date_gmt":"2026-01-22T02:45:45","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17345"},"modified":"2026-07-18T10:07:06","modified_gmt":"2026-07-18T10:07:06","slug":"joubert-syndrome-21-jbts21","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/joubert-syndrome-21-jbts21\/","title":{"rendered":"\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u3068\u306f\uff5c\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u81fc\u6b6f\u5fb4\u5019\u3092\u89e3\u8aac"},"content":{"rendered":"\n<style>.hiro-box{border:2px solid #6aa9d6;border-radius:10px;padding:20px 24px;margin:24px 0;background:#f2f8fc;}.hiro-box p.hiro-box-ttl{font-weight:700;font-size:1.08em;margin:0 0 12px;}.hiro-box ul{margin:0;padding-left:1.3em;line-height:1.9;}.hiro-box li{text-indent:0 !important;list-style:disc;}<\/style>\n<div class=\"hiro-box\">\n<p class=\"hiro-box-ttl\">\ud83d\udccc \u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul>\n<li>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\uff08JBTS21\uff09\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\u304b\u3001\u5225\u540d\u3068\u7e4a\u6bdb\u75c5\u3068\u3057\u3066\u306e\u4f4d\u7f6e\u3065\u3051<\/li>\n<li>\u539f\u56e0\u3068\u306a\u308bCSPP1\u907a\u4f1d\u5b50\u3068\u30018\u756a\u67d3\u8272\u4f53\u4e0a\u306e\u5bfe\u8c61\u9818\u57df<\/li>\n<li>\u81fc\u6b6f\u5fb4\u5019\uff08MTS\uff09\u3084\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210\u306a\u3069\u3001\u8133\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u4e3b\u306a\u75c7\u72b6\u30fb\u7279\u5fb4<\/li>\n<li>MRI\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u8a3a\u65ad\u306e\u9032\u3081\u65b9<\/li>\n<li>\u6cbb\u7642\u30fb\u7642\u80b2\u306e\u8003\u3048\u65b9\u3068\u3001\u3054\u5bb6\u65cf\u304c\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u4e88\u5f8c\u30fb\u907a\u4f1d\u306e\u898b\u901a\u3057<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\uff08\u3058\u3085\u3079\u30fc\u308b\u3057\u3087\u3046\u3053\u3046\u3050\u309321\u304c\u305f\uff09\u306f\u3001\u8133\u306e\u5f62\u6210\u7570\u5e38\u3092\u7279\u5fb4\u3068\u3059\u308b\u5e0c\u5c11\u306a\u5148\u5929\u6027\u306e\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u82f1\u8a9e\u3067\u306fJoubert syndrome 21\u3001\u7565\u3057\u3066JBTS21\u3068\u547c\u3070\u308c\u307e\u3059\u3002<strong>\u539f\u56e0\u306fCSPP1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3001\u8133\u306eMRI\u306b\u300c\u81fc\u6b6f\u5fb4\u5019\uff08\u304d\u3085\u3046\u3057\u3061\u3087\u3046\u3053\u3046\uff09\u300d\u3068\u3044\u3046\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u3042\u3089\u308f\u308c\u308b\u306e\u304c\u6700\u5927\u306e\u76ee\u5370\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u300c\u691c\u67fb\u3067\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u3092\u544a\u3052\u3089\u308c\u305f\u300d\u300c\u308f\u304c\u5b50\u304c\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u300d\u3002\u305d\u3046\u3057\u305f\u5834\u9762\u3067\u3001\u5927\u304d\u306a\u4e0d\u5b89\u306e\u306a\u304b\u3053\u306e\u30da\u30fc\u30b8\u3092\u958b\u3044\u305f\u65b9\u3082\u3044\u3089\u3063\u3057\u3083\u308b\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u8a3a\u65ad\u304b\u3089\u3001\u6cbb\u7642\u3084\u4e88\u5f8c\u306e\u8003\u3048\u65b9\u307e\u3067\u3092\u3001\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u3084\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u516c\u7684\u6a5f\u95a2\u306e\u60c5\u5831\u3092\u3082\u3068\u306b\u6574\u7406\u3057\u307e\u3057\u305f\u3002\u79c1\u305f\u3061\u304c\u65e5\u3005\u3054\u5bb6\u65cf\u3068\u5411\u304d\u5408\u3046\u306a\u304b\u3067\u611f\u3058\u308b\u306e\u306f\u3001\u6b63\u78ba\u306b\u77e5\u308b\u3053\u3068\u304c\u6b21\u306e\u4e00\u6b69\u3092\u9078\u3076\u652f\u3048\u306b\u306a\u308b\u3068\u3044\u3046\u3053\u3068\u3002\u904e\u5ea6\u306b\u4e0d\u5b89\u3092\u717d\u3089\u306a\u3044\u3088\u3046\u3001\u4e8b\u5b9f\u3092\u3066\u3044\u306d\u3044\u306b\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u843d\u3061\u7740\u3044\u3066\u8aad\u307f\u9032\u3081\u3066\u3044\u305f\u3060\u3051\u308c\u3070\u5e78\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\uff08JBTS21\uff09\u3068\u306f\uff1f\u5225\u540d\u3068\u95a2\u9023\u75be\u60a3<\/h2>\n\n\n\n<p><strong>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306f\u3001\u7d30\u80de\u306e\u30a2\u30f3\u30c6\u30ca\u5f79\u3067\u3042\u308b\u300c\u7e4a\u6bdb\uff08\u305b\u3093\u3082\u3046\uff09\u300d\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u7e4a\u6bdb\u75c5\uff08ciliopathy\uff09\u306e\u4e00\u7a2e\u3067\u3001CSPP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/strong>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306b\u306f\u73fe\u572830\u7a2e\u985e\u4ee5\u4e0a\u306e\u578b\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e21\u756a\u76ee\u306b\u3042\u305f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u547c\u79f0\u30fb\u95a2\u9023\u75be\u60a3<\/th><th>\u610f\u5473\u30fb\u95a2\u4fc2<\/th><\/tr><\/thead><tbody><tr><td>JBTS21<\/td><td>Joubert syndrome 21\u306e\u7565\u3002CSPP1\u5909\u7570\u306b\u3088\u308b21\u756a\u76ee\u306e\u578b\u3092\u6307\u3059<\/td><\/tr><tr><td>CSPP1\u95a2\u9023\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td>\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540d\u524d\u3092\u51a0\u3057\u305f\u547c\u3073\u65b9<\/td><\/tr><tr><td>\u7e4a\u6bdb\u75c5\uff08ciliopathy\uff09<\/td><td>\u7d30\u80de\u306e\u7e4a\u6bdb\u306e\u7570\u5e38\u3067\u8d77\u3053\u308b\u75be\u60a3\u7fa4\u3002\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306f\u3053\u306e\u4e00\u7a2e<\/td><\/tr><tr><td>COACH\u75c7\u5019\u7fa4\uff08\u95a2\u9023\uff09<\/td><td>\u809d\u7dda\u7dad\u75c7\u3092\u4f34\u3046\u75c5\u578b\u300221\u578b\u3067\u3082\u809d\u5408\u4f75\u75c7\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><tr><td>\u6709\u99ac\u75c7\u5019\u7fa4\uff08Dekaban-Arima\u3001\u95a2\u9023\uff09<\/td><td>1971\u5e74\u306b\u65e5\u672c\u3067\u6709\u99ac\u6b63\u9ad8\u535a\u58eb\u304c\u5831\u544a\u3057\u305f\u3001\u91cd\u3044\u773c\u30fb\u814e\u5408\u4f75\u75c7\u3092\u4f34\u3046\u95a2\u9023\u75be\u60a3<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u65e5\u672c\u3067\u306f\u300c\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u95a2\u9023\u75be\u60a3\u300d\u3068\u3057\u3066\u6307\u5b9a\u96e3\u75c5\uff08177\uff09\u306b\u5b9a\u3081\u3089\u308c\u3001\u516c\u7684\u306a\u652f\u63f4\u306e\u5bfe\u8c61\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u95a2\u9023\u75be\u60a3\u306b\u306f\u6709\u99ac\u75c7\u5019\u7fa4\u3084\u30bb\u30cb\u30aa\u30fc\u30eb\u30fb\u30ed\u30fc\u30b1\u30f3\u75c7\u5019\u7fa4\u3001COACH\u75c7\u5019\u7fa4\u306a\u3069\u304c\u542b\u307e\u308c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u9055\u3044\u306b\u3088\u3063\u3066\u591a\u304f\u306e\u4e9c\u578b\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u8a3a\u65ad\u306e\u3064\u3044\u305f\u75c5\u540d\u304c\u3069\u306e\u30b0\u30eb\u30fc\u30d7\u306b\u5c5e\u3059\u308b\u306e\u304b\u3092\u77e5\u3063\u3066\u304a\u304f\u3068\u3001\u652f\u63f4\u5236\u5ea6\u3092\u8abf\u3079\u308b\u3068\u304d\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306e\u539f\u56e0\u907a\u4f1d\u5b50\uff08CSPP1\uff09\u3068\u67d3\u8272\u4f53\u9818\u57df<\/h2>\n\n\n\n<p><strong>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff088q13.1\u301cq13.2\u9818\u57df\uff09\u306b\u3042\u308bCSPP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/strong>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u3064\u304f\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7d30\u80de\u306e\u7e4a\u6bdb\u306e\u6839\u5143\u3067\u306f\u305f\u3089\u3044\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u9805\u76ee<\/th><th>\u5185\u5bb9<\/th><\/tr><\/thead><tbody><tr><td>\u8cac\u4efb\u907a\u4f1d\u5b50<\/td><td>CSPP1\uff08Centrosome and Spindle Pole Associated Protein 1\uff09<\/td><\/tr><tr><td>\u67d3\u8272\u4f53\u4e0a\u306e\u4f4d\u7f6e<\/td><td>8\u756a\u67d3\u8272\u4f53 \u9577\u8155 8q13.1\u301cq13.2<\/td><\/tr><tr><td>\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5f79\u5272<\/td><td>\u7d30\u80de\u5206\u88c2\u3092\u62c5\u3046\u300c\u4e2d\u5fc3\u4f53\u300d\u3084\u3001\u30a2\u30f3\u30c6\u30ca\u5f79\u306e\u300c\u4e00\u6b21\u7e4a\u6bdb\u300d\u306e\u6839\u5143\u306b\u4f4d\u7f6e\u3059\u308b<\/td><\/tr><tr><td>\u907a\u4f1d\u5f62\u5f0f<\/td><td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u4e00\u6b21\u7e4a\u6bdb\u306f\u3001\u7d30\u80de\u306e\u5916\u304b\u3089\u306e\u30b7\u30b0\u30ca\u30eb\u3092\u53d7\u3051\u53d6\u3063\u3066\u5185\u90e8\u3078\u4f1d\u3048\u308b\u5927\u5207\u306a\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3068\u304f\u306b\u80ce\u5150\u671f\u306e\u8133\u3001\u306a\u304b\u3067\u3082\u5c0f\u8133\u3084\u8133\u5e79\u304c\u6b63\u3057\u304f\u3064\u304f\u3089\u308c\u308b\u305f\u3081\u306b\u306f\u3001\u3053\u306e\u7e4a\u6bdb\u306e\u306f\u305f\u3089\u304d\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002CSPP1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u7e4a\u6bdb\u306e\u5f62\u6210\u3084\u7dad\u6301\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308a\u3001\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u304c\u4e71\u308c\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306b\u7279\u5fb4\u7684\u306a\u8133\u306e\u69cb\u9020\u7570\u5e38\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306e\u767a\u751f\u983b\u5ea6<\/h2>\n\n\n\n<p><strong>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u767a\u751f\u983b\u5ea6\u306f\u3001\u304a\u3088\u305d8\u4e07\u4eba\u304b\u308910\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>21\u578b\u306f\u305d\u306e\u306a\u304b\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u3072\u3068\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>21\u578b\u306e\u4f4d\u7f6e\u3065\u3051\uff1aCSPP1\u5909\u7570\u306b\u3088\u308b21\u578b\u306f\u3001\u591a\u304f\u306e\u578b\u304c\u3042\u308b\u306a\u304b\u3067\u3082\u6bd4\u8f03\u7684\u5831\u544a\u306e\u591a\u3044\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u3072\u3068\u3064\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6027\u5dee\uff1a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u7537\u5973\u3067\u767a\u751f\u306e\u6bd4\u7387\u306b\u5927\u304d\u306a\u5dee\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u5730\u57df\u5dee\uff1a\u7279\u5b9a\u306e\u5730\u57df\u3067\u307e\u3068\u307e\u3063\u3066\u5831\u544a\u3055\u308c\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u4e16\u754c\u4e2d\u3067\u6563\u767a\u7684\u306b\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306e\u4e3b\u306a\u75c7\u72b6\u30fb\u7279\u5fb4\uff08\u81fc\u6b6f\u5fb4\u5019\u30fb\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210\uff09<\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306f\u8133\uff08\u4e2d\u67a2\u795e\u7d4c\u7cfb\uff09\u306e\u7570\u5e38\u3092\u6838\u3068\u3057\u3066\u3001\u773c\u30fb\u814e\u81d3\u30fb\u809d\u81d3\u30fb\u624b\u8db3\u306a\u3069\u5168\u8eab\u306b\u3055\u307e\u3056\u307e\u306a\u5408\u4f75\u75c7\u3092\u4f34\u3046\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/strong>\u3042\u3089\u308f\u308c\u65b9\u3084\u7a0b\u5ea6\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305a\u5168\u4f53\u50cf\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u7cfb\u7d71<\/th><th>\u4e3b\u306b\u307f\u3089\u308c\u308b\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>\u8133\u30fb\u4e2d\u67a2\u795e\u7d4c<\/td><td>\u81fc\u6b6f\u5fb4\u5019\uff08MTS\uff09\u3001\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u904b\u52d5\u5931\u8abf<\/td><\/tr><tr><td>\u547c\u5438\u30fb\u773c<\/td><td>\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u7570\u5e38\uff08\u904e\u547c\u5438\u3068\u7121\u547c\u5438\uff09\u3001\u773c\u7403\u904b\u52d5\u5931\u884c<\/td><\/tr><tr><td>\u767a\u9054\u30fb\u77e5\u80fd<\/td><td>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3001\u7a0b\u5ea6\u306b\u5e45\u306e\u3042\u308b\u77e5\u7684\u969c\u5bb3<\/td><\/tr><tr><td>21\u578b\u3067\u76ee\u7acb\u3064\u5408\u4f75\u75c7<\/td><td>\u591a\u6307\uff08\u8dbe\uff09\u75c7\u3001\u7db2\u819c\u5909\u6027\u3001\u814e\u75be\u60a3\u3001\u809d\u7dda\u7dad\u75c7\u3001\u5f8c\u982d\u90e8\u8133\u7624<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">\u4e2d\u67a2\u795e\u7d4c\u306e\u7279\u5fb4\uff08\u81fc\u6b6f\u5fb4\u5019\u30fb\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210\uff09<\/h3>\n\n\n\n<p>\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u306b\u306a\u308b\u306e\u304c\u3001\u8133\u306eMRI\u3067\u307f\u3089\u308c\u308b\u7279\u5fb4\u7684\u306a\u6240\u898b\u3067\u3059\u3002<strong>\u81fc\u6b6f\u5fb4\u5019\uff08Molar Tooth Sign\uff0fMTS\uff09\u306f\u3001\u4e2d\u8133\u3068\u5c0f\u8133\u4e0a\u811a\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u8133\u306e\u65ad\u9762\u304c\u300c\u5965\u6b6f\uff08\u81fc\u6b6f\uff09\u300d\u306e\u3088\u3046\u306a\u5f62\u306b\u898b\u3048\u308b\u6240\u898b\u3067\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u5168\u822c\u306b\u5171\u901a\u3059\u308b\u8a3a\u65ad\u306e\u76ee\u5370\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210\uff1a\u904b\u52d5\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u53f8\u308b\u5c0f\u8133\u306e\u4e2d\u592e\u90e8\u5206\uff08\u866b\u90e8\uff09\u304c\u3001\u6b20\u640d\u307e\u305f\u306f\u672a\u767a\u9054\u306a\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09\uff1a\u4e73\u5150\u671f\u304b\u3089\u4f53\u304c\u975e\u5e38\u306b\u3084\u308f\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u904b\u52d5\u5931\u8abf\uff1a\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u3075\u3089\u3064\u304d\u3084\u52d5\u4f5c\u306e\u304e\u3053\u3061\u306a\u3055\u304c\u76ee\u7acb\u3064\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u547c\u5438\u304a\u3088\u3073\u773c\u7403\u904b\u52d5\u306e\u7570\u5e38<\/h3>\n\n\n\n<p>\u65b0\u751f\u5150\u671f\u306b\u306f\u3001\u72ec\u7279\u306a\u547c\u5438\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7570\u5e38\u306b\u901f\u3044\u547c\u5438\uff08\u904e\u547c\u5438\uff09\u3068\u3001\u547c\u5438\u304c\u6b62\u307e\u308b\u72b6\u614b\uff08\u7121\u547c\u5438\uff09\u3092\u4ea4\u4e92\u306b\u7e70\u308a\u8fd4\u3059\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u76ee\u306b\u3064\u3044\u3066\u306f\u3001\u7279\u5b9a\u306e\u65b9\u5411\u3078\u30b9\u30e0\u30fc\u30ba\u306b\u52d5\u304b\u3059\u3053\u3068\u304c\u96e3\u3057\u3044\u300c\u773c\u7403\u904b\u52d5\u5931\u884c\u300d\u304c\u307f\u3089\u308c\u3001\u982d\u3092\u632f\u3063\u3066\u88dc\u3046\u3088\u3046\u306a\u3057\u3050\u3055\u304c\u51fa\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u767a\u9054\u30fb\u77e5\u80fd<\/h3>\n\n\n\n<p>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u3068\u3044\u3063\u305f\u904b\u52d5\u767a\u9054\u306f\u3001\u8457\u3057\u304f\u9045\u308c\u308b\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002\u77e5\u7684\u306a\u767a\u9054\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002\u306a\u304b\u306b\u306f\u6b63\u5e38\u306b\u8fd1\u3044\u8a8d\u77e5\u6a5f\u80fd\u3092\u4fdd\u3064\u304a\u5b50\u3055\u3093\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002\u7642\u80b2\u3092\u901a\u3057\u3066\u3001\u305d\u306e\u5b50\u306e\u6301\u3064\u529b\u3092\u5c11\u3057\u305a\u3064\u5f15\u304d\u51fa\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">21\u578b\u3067\u983b\u5ea6\u304c\u9ad8\u3044\u5408\u4f75\u75c7<\/h3>\n\n\n\n<p>CSPP1\u5909\u7570\u306b\u3088\u308b21\u578b\u3067\u306f\u3001\u5168\u8eab\u306e\u81d3\u5668\u306b\u4ee5\u4e0b\u306e\u5408\u4f75\u75c7\u304c\u6bd4\u8f03\u7684\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u773c\u3068\u814e\u81d3\u306b\u3064\u3044\u3066\u306f\u3001\u6210\u9577\u306b\u3068\u3082\u306a\u3063\u3066\u75c7\u72b6\u304c\u9032\u3080\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u78ba\u8a8d\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u591a\u6307\uff08\u8dbe\uff09\u75c7\uff1a\u624b\u3084\u8db3\u306e\u6307\u304c6\u672c\u4ee5\u4e0a\u3042\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7db2\u819c\u5909\u6027\uff08\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff09\uff1a\u8996\u529b\u306e\u4f4e\u4e0b\u3084\u591c\u76f2\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u9032\u884c\u3059\u308b\u3068\u8996\u899a\u969c\u5bb3\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u814e\u75be\u60a3\uff08\u30cd\u30d5\u30ed\u30f3\u7646\uff0f\u30cd\u30d5\u30ed\u30ce\u30d5\u30c1\u30b7\u30b9\uff09\uff1a\u814e\u81d3\u306b\u5c0f\u3055\u306a\u56a2\u80de\u304c\u3067\u304d\u3001\u9032\u884c\u3059\u308b\u3068\u814e\u4e0d\u5168\u306b\u81f3\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u809d\u7dda\u7dad\u75c7\uff1a\u809d\u81d3\u304c\u786c\u304f\u306a\u308a\u3001\u9580\u8108\u5727\u4ea2\u9032\u75c7\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f8c\u982d\u90e8\u8133\u7624\uff1a\u982d\u84cb\u9aa8\u306e\u5f8c\u308d\u5074\u306b\u8133\u306e\u4e00\u90e8\u304c\u98db\u3073\u51fa\u3057\u305f\u72b6\u614b\u3067\u751f\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u300121\u578b\u3067\u6bd4\u8f03\u7684\u5831\u544a\u306e\u591a\u3044\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306e\u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-1.jpg\" alt=\"\u4e16\u4ee3\u9593\u3067\u53d7\u3051\u7d99\u304c\u308c\u308b\u907a\u4f1d\u3092\u8868\u3057\u305f\u4e8c\u91cd\u3089\u305b\u3093\u306e\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17847\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-1.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-1-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-1-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-1-768x439.jpg 768w\" sizes=\"auto, (max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306f\u3001CSPP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u4e21\u89aa\u304b\u3089\u4e00\u3064\u305a\u3064\u5f15\u304d\u7d99\u304c\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u89aa\u306e\u751f\u6d3b\u7fd2\u6163\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u306b\u306a\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4fdd\u56e0\u8005\u3068\u3057\u3066\u306e\u4e21\u89aa\uff1a\u4e21\u89aa\u306f\u3075\u3064\u3046\u3001\u5909\u7570\u3057\u305f\u907a\u4f1d\u5b50\u3092\u4e00\u3064\u3060\u3051\u6301\u3064\u300c\u4fdd\u56e0\u8005\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u300d\u3067\u3001\u3054\u81ea\u8eab\u306b\u75c7\u72b6\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u767a\u75c7\u306e\u78ba\u7387\uff1a\u5b50\u3069\u3082\u304c\u4e21\u89aa\u305d\u308c\u305e\u308c\u304b\u3089\u5909\u7570\u907a\u4f1d\u5b50\u3092\u4e00\u3064\u305a\u3064\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\uff08\u7406\u8ad6\u4e0a4\u5206\u306e1\u306e\u78ba\u7387\uff09\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5909\u7570\u306e\u7a2e\u985e\uff1aCSPP1\u907a\u4f1d\u5b50\u306e\u306f\u305f\u3089\u304d\u3092\u5931\u308f\u305b\u308b\u30bf\u30a4\u30d7\u306e\u5909\u7570\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u3054\u5bb6\u65cf\u306e\u907a\u4f1d\u306e\u898b\u901a\u3057\u3092\u6574\u7406\u3057\u305f\u3044\u3068\u304d\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u305d\u306e\u3082\u306e\u306e\u4f4d\u7f6e\u3065\u3051\u3092\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinical-genetic-testing-overview\/\">\u81e8\u5e8a\u73fe\u5834\u3067\u884c\u308f\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3064\u3044\u3066<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306e\u8a3a\u65ad\u65b9\u6cd5\uff08MRI\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\uff09<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-2.jpg\" alt=\"MRI\u88c5\u7f6e\u3068\u8133\u30fb\u691c\u67fb\u7528\u8a66\u9a13\u7ba1\u3092\u63cf\u3044\u305f\u8a3a\u65ad\u306e\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17848\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-2.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-2-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-2-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-2-768x439.jpg 768w\" sizes=\"auto, (max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u8a55\u4fa1\u30fb\u982d\u90e8MRI\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u4e09\u3064\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u3001CSPP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u78ba\u8a8d\u3057\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u691c\u67fb\u306e\u5f79\u5272\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u982d\u90e8MRI\u691c\u67fb\uff1a\u3082\u3063\u3068\u3082\u91cd\u8981\u306a\u691c\u67fb\u3067\u3059\u3002\u81fc\u6b6f\u5fb4\u5019\uff08MTS\uff09\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u8a55\u4fa1\uff1a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u547c\u5438\u306e\u7570\u5e38\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u773c\u7403\u904b\u52d5\u306a\u3069\u3092\u89b3\u5bdf\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09\uff1a\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306b\u3088\u308b\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u30d1\u30cd\u30eb\u691c\u67fb\u3084\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3067CSPP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5f8c\u306f\u3001\u5408\u4f75\u75c7\u3092\u65e9\u304f\u898b\u3064\u3051\u308b\u305f\u3081\u306e\u5168\u8eab\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3082\u5927\u5207\u3067\u3059\u3002<\/strong>\u773c\u79d1\u3067\u306e\u7db2\u819c\u306e\u691c\u67fb\uff08\u7db2\u819c\u96fb\u56f3\u306a\u3069\uff09\u3001\u8179\u90e8\u8d85\u97f3\u6ce2\u306b\u3088\u308b\u814e\u81d3\u30fb\u809d\u81d3\u306e\u78ba\u8a8d\u3001\u8840\u6db2\u691c\u67fb\u306b\u3088\u308b\u814e\u6a5f\u80fd\u30fb\u809d\u6a5f\u80fd\u306e\u5b9a\u671f\u8a55\u4fa1\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002\u5148\u5929\u6027\u306e\u75be\u60a3\u3068\u691c\u67fb\u306e\u95a2\u308f\u308a\u3092\u5e83\u304f\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-testing-overview\/\">\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u898b\u308b\u5148\u5929\u6027\u75be\u60a3\u3068\u305d\u306e\u4e88\u9632\u7b56<\/a>\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button has-custom-width wp-block-button__width-75\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/\">\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u51fa\u751f\u524d\u691c\u67fb\u306b\u3064\u3044\u3066\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306b\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306e\u6cbb\u7642\u30fb\u7ba1\u7406<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-3.jpg\" alt=\"\u652f\u3048\u308b\u624b\u3068\u30cf\u30fc\u30c8\u3067\u7642\u80b2\u30fb\u30b5\u30dd\u30fc\u30c8\u3092\u8868\u3057\u305f\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17849\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-3.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-3-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-3-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17345-h2-3-768x439.jpg 768w\" sizes=\"auto, (max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u6b20\u640d\u3057\u305f\u907a\u4f1d\u5b50\u3084\u8133\u306e\u69cb\u9020\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u65b9\u6cd5\u306f\u306a\u304f\u3001\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5305\u62ec\u7684\u306a\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/strong>\u8907\u6570\u306e\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3057\u3066\u304a\u5b50\u3055\u3093\u3092\u652f\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u547c\u5438\u306e\u7ba1\u7406<\/h3>\n\n\n\n<p>\u65b0\u751f\u5150\u671f\u306e\u7121\u547c\u5438\u3084\u904e\u547c\u5438\u306b\u5bfe\u3057\u3066\u306f\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3084\u9178\u7d20\u306e\u6295\u4e0e\u3092\u884c\u3044\u307e\u3059\u3002\u91cd\u3044\u5834\u5408\u306b\u306f\u3001\u4eba\u5de5\u547c\u5438\u5668\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u7642\u80b2\uff09<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3001\u904b\u52d5\u767a\u9054\u3092\u3046\u306a\u304c\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a\u624b\u5148\u306e\u6a5f\u80fd\u3084\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08ADL\uff09\u306e\u6539\u5584\u3092\u56f3\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\uff1a\u3053\u3068\u3070\u306e\u9045\u308c\u3084\u3001\u98f2\u307f\u8fbc\u307f\uff08\u56a5\u4e0b\uff09\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u5404\u81d3\u5668\u306e\u5408\u4f75\u75c7\u3078\u306e\u5bfe\u5fdc<\/h3>\n\n\n\n<p>\u773c\u79d1\u3067\u306f\u8996\u529b\u3092\u88dc\u3046\u9053\u5177\u306e\u4f7f\u7528\u3084\u906e\u5149\u773c\u93e1\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002\u814e\u4e0d\u5168\u304c\u9032\u3093\u3060\u5834\u5408\u306b\u306f\u3001\u98df\u4e8b\u7642\u6cd5\u3084\u900f\u6790\u3001\u814e\u79fb\u690d\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002\u591a\u6307\u75c7\u306b\u5bfe\u3059\u308b\u5207\u9664\u624b\u8853\u3084\u3001\u8133\u7624\u306b\u5bfe\u3059\u308b\u4fee\u5fa9\u8853\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u3001\u305d\u306e\u5b50\u306e\u77e5\u7684\u30fb\u904b\u52d5\u30ec\u30d9\u30eb\u306b\u5408\u3063\u305f\u7279\u5225\u652f\u63f4\u6559\u80b2\u3084\u3001\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u306a\u30b1\u30a2\u3082\u5927\u5207\u306a\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306e\u4e88\u5f8c<\/h2>\n\n\n\n<p><strong>\u4e88\u5f8c\u306f\u5408\u4f75\u75c7\u306e\u91cd\u3055\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u91cd\u3044\u547c\u5438\u5668\u3084\u814e\u30fb\u809d\u306e\u5408\u4f75\u75c7\u304c\u306a\u3051\u308c\u3070\u3001\u6210\u4eba\u671f\u3092\u8fce\u3048\u308b\u304a\u5b50\u3055\u3093\u3082\u591a\u304f\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/strong>\u6570\u5b57\u3060\u3051\u3067\u898b\u901a\u3057\u304c\u6c7a\u307e\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u547d\u306e\u898b\u901a\u3057\uff1a\u5408\u4f75\u75c7\u306e\u91cd\u75c7\u5ea6\u306b\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002\u91cd\u3044\u814e\u4e0d\u5168\u3084\u809d\u4e0d\u5168\u3001\u547c\u5438\u5668\u306e\u554f\u984c\u304c\u306a\u3051\u308c\u3070\u3001\u9577\u304f\u751f\u6d3b\u3092\u7d9a\u3051\u3089\u308c\u308b\u4f8b\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u751f\u6d3b\u306e\u8cea\uff1a\u65e9\u3044\u6642\u671f\u304b\u3089\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u3001\u9069\u5207\u306a\u6559\u80b2\u652f\u63f4\u306b\u3088\u3063\u3066\u3001\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u76ee\u6307\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u306f\u8a08\u308a\u77e5\u308c\u306a\u3044\u3082\u306e\u3067\u3059\u3002\u305d\u308c\u3067\u3082\u79c1\u305f\u3061\u304c\u73fe\u5834\u3067\u611f\u3058\u308b\u306e\u306f\u3001\u304a\u5b50\u3055\u3093\u304c\u78ba\u304b\u306b\u3054\u5bb6\u65cf\u306e\u611b\u3092\u53d7\u3051\u53d6\u308a\u3001\u529b\u5f37\u304f\u6b69\u3093\u3067\u3044\u304f\u3068\u3044\u3046\u3053\u3068\u3002<strong>\u7d71\u8a08\u306f\u96c6\u56e3\u306e\u50be\u5411\u3067\u3042\u3063\u3066\u3001\u76ee\u306e\u524d\u306e\u304a\u5b50\u3055\u3093\u4e00\u4eba\u3072\u3068\u308a\u306e\u6b69\u307f\u3092\u6c7a\u3081\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306f\u30011969\u5e74\u306b\u30b8\u30e5\u30d9\u30fc\u30eb\u535a\u58eb\u304c\u521d\u3081\u3066\u5831\u544a\u3057\u3001\u65e5\u672c\u3067\u306f1971\u5e74\u306b\u6709\u99ac\u6b63\u9ad8\u535a\u58eb\u304c\u95a2\u9023\u75be\u60a3\u3092\u5831\u544a\u3059\u308b\u306a\u3069\u3001\u9577\u3044\u5e74\u6708\u3092\u304b\u3051\u3066\u7406\u89e3\u304c\u6df1\u307e\u3063\u3066\u304d\u305f\u75c5\u6c17\u3067\u3059\u3002\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3067\u5408\u4f75\u75c7\u3092\u65e9\u304f\u898b\u3064\u3051\u3001\u5c0f\u5150\u79d1\u30fb\u795e\u7d4c\u79d1\u30fb\u773c\u79d1\u30fb\u814e\u81d3\u79d1\u30fb\u30ea\u30cf\u30d3\u30ea\u79d1\u3068\u3044\u3063\u305f\u5c02\u9580\u5bb6\u30c1\u30fc\u30e0\u3068\u4e8c\u4eba\u4e09\u811a\u3067\u6b69\u3093\u3067\u3044\u304f\u3053\u3068\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u9053\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306b\u95a2\u3059\u308b\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q1. \u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\uff08JBTS21\uff09\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>CSPP1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u3072\u3068\u3064\u3067\u3059\u3002\u8133\u306eMRI\u3067\u307f\u3089\u308c\u308b\u300c\u81fc\u6b6f\u5fb4\u5019\u300d\u3092\u7279\u5fb4\u3068\u3057\u3001\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u7570\u5e38\u306a\u3069\u3092\u4f34\u3044\u307e\u3059\u3002\u7d30\u80de\u306e\u7e4a\u6bdb\u306e\u7570\u5e38\u3067\u8d77\u3053\u308b\u300c\u7e4a\u6bdb\u75c5\u300d\u306e\u4e00\u7a2e\u3067\u3001\u65e5\u672c\u3067\u306f\u6307\u5b9a\u96e3\u75c5\uff08177\uff09\u306b\u5b9a\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q2. \u81fc\u6b6f\u5fb4\u5019\uff08MTS\uff09\u3068\u306f\u4f55\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u982d\u90e8MRI\u306e\u65ad\u9762\u3067\u3001\u8133\u306e\u4e00\u90e8\u304c\u300c\u5965\u6b6f\uff08\u81fc\u6b6f\uff09\u300d\u306e\u3088\u3046\u306a\u5f62\u306b\u898b\u3048\u308b\u6240\u898b\u306e\u3053\u3068\u3067\u3059\u3002\u4e2d\u8133\u3068\u5c0f\u8133\u4e0a\u811a\u306e\u69cb\u9020\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u3058\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u5168\u822c\u306b\u5171\u901a\u3057\u3066\u307f\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u6240\u898b\u306f\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u3068\u306a\u308b\u91cd\u8981\u306a\u30b5\u30a4\u30f3\u3067\u3001MTS\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u51fa\u767a\u70b9\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q3. \u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f\u6b21\u306e\u5b50\u3078\u306e\u5f71\u97ff\u306f\uff1f<\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u4e21\u89aa\u306f\u3075\u3064\u3046\u75c7\u72b6\u306e\u306a\u3044\u4fdd\u56e0\u8005\u3067\u3001\u5b50\u3069\u3082\u304c\u4e21\u89aa\u305d\u308c\u305e\u308c\u304b\u3089\u5909\u7570\u907a\u4f1d\u5b50\u3092\u4e00\u3064\u305a\u3064\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\uff08\u7406\u8ad6\u4e0a4\u5206\u306e1\u306e\u78ba\u7387\uff09\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u3054\u5bb6\u65cf\u306e\u898b\u901a\u3057\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3066\u3044\u306d\u3044\u306b\u6574\u7406\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q4. \u3069\u306e\u3088\u3046\u306b\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u81e8\u5e8a\u75c7\u72b6\u306e\u8a55\u4fa1\u3001\u982d\u90e8MRI\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u4e09\u3064\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u8a3a\u65ad\u3057\u307e\u3059\u3002MRI\u3067\u81fc\u6b6f\u5fb4\u5019\u3092\u78ba\u8a8d\u3057\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306a\u3069\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3067CSPP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3057\u3066\u78ba\u5b9a\u8a3a\u65ad\u3068\u3057\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u3001\u773c\u30fb\u814e\u81d3\u30fb\u809d\u81d3\u306e\u5408\u4f75\u75c7\u3092\u8abf\u3079\u308b\u5168\u8eab\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3082\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q5. \u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\uff1f\u4e88\u5f8c\u306f\u3069\u3046\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u907a\u4f1d\u5b50\u3084\u8133\u306e\u69cb\u9020\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u65b9\u6cd5\u306f\u4eca\u306e\u3068\u3053\u308d\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\u3067\u304a\u5b50\u3055\u3093\u3092\u652f\u3048\u307e\u3059\u3002\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u3084\u3001\u5404\u81d3\u5668\u306e\u5408\u4f75\u75c7\u3078\u306e\u6cbb\u7642\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u4e88\u5f8c\u306f\u5408\u4f75\u75c7\u306e\u91cd\u3055\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u91cd\u3044\u814e\u30fb\u809d\u30fb\u547c\u5438\u5668\u306e\u554f\u984c\u304c\u306a\u3051\u308c\u3070\u3001\u6210\u4eba\u671f\u3092\u8fce\u3048\u308b\u304a\u5b50\u3055\u3093\u3082\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u307e\u3068\u3081<\/h2>\n\n\n\n<p><strong>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\uff08JBTS21\uff09\u306f\u3001CSPP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u7e4a\u6bdb\u75c5\u3067\u3001\u8133\u306eMRI\u306b\u3042\u3089\u308f\u308c\u308b\u81fc\u6b6f\u5fb4\u5019\u3092\u6700\u5927\u306e\u76ee\u5370\u3068\u3059\u308b\u3001\u8133\u306e\u5f62\u6210\u7570\u5e38\u3092\u7279\u5fb4\u3068\u3057\u305f\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>21\u578b\u3067\u306f\u3001\u624b\u8db3\u306e\u6307\u306e\u591a\u3055\u3084\u3001\u773c\u30fb\u814e\u81d3\u306e\u5408\u4f75\u75c7\u306b\u3068\u304f\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u306f\u5927\u304d\u3044\u3082\u306e\u3067\u3059\u3002\u305d\u308c\u3067\u3082\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u533b\u7642\u306e\u9032\u6b69\u306b\u3088\u3063\u3066\u3001\u304a\u5b50\u3055\u3093\u304c\u6301\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u3092\u5f15\u304d\u51fa\u305b\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3067\u5408\u4f75\u75c7\u3092\u65e9\u304f\u898b\u3064\u3051\u3001\u5c02\u9580\u5bb6\u30c1\u30fc\u30e0\u3068\u4e00\u7dd2\u306b\u6b69\u3093\u3067\u3044\u304f\u3053\u3068\u304c\u4f55\u3088\u308a\u5927\u5207\u3067\u3059\u3002\u307b\u304b\u306e\u578b\u3084\u67d3\u8272\u4f53\u75be\u60a3\u306b\u3064\u3044\u3066\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/joubert-syndrome-6-jbts6\/\">\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa46\u578b\uff08JBTS6\uff09<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/patau-syndrome\/\">\u30d1\u30c8\u30a6\u75c7\u5019\u7fa4\uff0813\u30c8\u30ea\u30bd\u30df\u30fc\uff09<\/a>\u306e\u89e3\u8aac\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button has-custom-width wp-block-button__width-75\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u51fa\u751f\u524d\u691c\u67fb\u3092\u898b\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc. <em>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u95a2\u9023\u75be\u60a3\uff08\u6307\u5b9a\u96e3\u75c5177\uff09.<\/em>\uff08\u6982\u8981\u30fb\u75c7\u72b6\u30fb\u8a3a\u65ad\u30fb\u652f\u63f4\u5236\u5ea6\u3092\u516c\u7684\u6a5f\u95a2\u304c\u307e\u3068\u3081\u305f\u89e3\u8aac\u3002<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4552\" target=\"_blank\" rel=\"noopener\">\u30da\u30fc\u30b8\u306f\u3053\u3061\u3089<\/a>\uff09<\/li>\n\n\n\n<li>\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc. <em>\u30b8\u30e5\u30d9\u30fc\u30eb\uff08Joubert\uff09\u75c7\u5019\u7fa4\u95a2\u9023\u75be\u60a3.<\/em>\uff08\u5c0f\u5150\u671f\u306e\u8a3a\u65ad\u30fb\u7ba1\u7406\u30fb\u652f\u63f4\u5236\u5ea6\u306b\u95a2\u3059\u308b\u516c\u7684\u306a\u89e3\u8aac\u3002<a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_05_016\/\" target=\"_blank\" rel=\"noopener\">\u30da\u30fc\u30b8\u306f\u3053\u3061\u3089<\/a>\uff09<\/li>\n\n\n\n<li>MedlinePlus Genetics. <em>Joubert Syndrome.<\/em> U.S. National Library of Medicine.\uff08\u983b\u5ea6\u30fb\u75c7\u72b6\u30fb\u907a\u4f1d\u5f62\u5f0f\u30fb\u95a2\u9023\u907a\u4f1d\u5b50\u3092\u516c\u7684\u6a5f\u95a2\u304c\u307e\u3068\u3081\u305f\u89e3\u8aac\u3002\u767a\u751f\u983b\u5ea6\u306e\u51fa\u5178\u3002<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/joubert-syndrome\/\" target=\"_blank\" rel=\"noopener\">\u30da\u30fc\u30b8\u306f\u3053\u3061\u3089<\/a>\uff09<\/li>\n\n\n\n<li>GeneReviews\u00ae [Internet]. <em>Joubert Syndrome.<\/em> University of Washington, Seattle.\uff08\u8a3a\u65ad\u57fa\u6e96\u30fb\u5404\u75c5\u578b\u30fb\u7ba1\u7406\u306b\u95a2\u3059\u308b\u6a19\u6e96\u7684\u306a\u30ea\u30d5\u30a1\u30ec\u30f3\u30b9\u3002<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1325\/\" target=\"_blank\" rel=\"noopener\">\u30da\u30fc\u30b8\u306f\u3053\u3061\u3089<\/a>\uff09<\/li>\n\n\n\n<li>OMIM (Online Mendelian Inheritance in Man). <em>#615636 JOUBERT SYNDROME 21; JBTS21.<\/em>\uff08CSPP1\u907a\u4f1d\u5b50\u306821\u578b\u306e\u95a2\u9023\u3092\u96c6\u7d04\u3057\u305f\u907a\u4f1d\u5b50\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n\n\n\n<script 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