{"id":193,"date":"2024-03-27T06:06:41","date_gmt":"2024-03-27T06:06:41","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=disease&p=193"},"modified":"2025-04-16T09:45:37","modified_gmt":"2025-04-16T09:45:37","slug":"autism","status":"publish","type":"disease","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/disease\/autism\/","title":{"rendered":"\u81ea\u9589\u75c7"},"content":{"rendered":"\n
Gene<\/td>Associated phenotypes<\/td>\u95a2\u9023\u3059\u308b\u8868\u73fe\u578b<\/td>Inheritance<\/td><\/tr>
ADNP<\/td>Helsmoortel-van der Aa syndrome (Mental retardation, autosomal dominant 28)<\/td>\u30d8\u30eb\u30b9\u30e2\u30fc\u30eb\u30c6\u30eb\u30fb\u30d5\u30a1\u30f3\u30fb\u30c7\u30eb\u30fb\u30a2\u30fc\u75c7\u5019\u7fa4\uff08\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u602728\u578b\uff09<\/td>AD<\/td><\/tr>
BCL11A<\/td>Dias-Logan syndrome<\/td>\u30c7\u30a3\u30a2\u30b9\u30fb\u30ed\u30fc\u30ac\u30f3\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
C12ORF4<\/td>Developmental delay and seizures with or without movement abnormalities (DEDSM)<\/td>\u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u904b\u52d5\u7570\u5e38\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u4f5c (DEDSM)<\/td>AR<\/td><\/tr>
CACNA1C<\/td>Brugada syndrome, Timothy syndrome, Neurodevelopmental disorder<\/td>\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u3001\u30c6\u30a3\u30e2\u30b7\u30fc\u75c7\u5019\u7fa4\u3001\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
CC2D1A<\/td>Mental retardation, autosomal recessive 3<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 3<\/td>AR<\/td><\/tr>
CNOT3<\/td>Intellectual developmental disorder<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
CNTN6<\/td>Developmental delay and seizures with or without movement abnormalities (DEDSM)<\/td>\u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u904b\u52d5\u7570\u5e38\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u4f5c (DEDSM)<\/td>AD<\/td><\/tr>
COL4A3BP<\/td>Mental retardation, autosomal dominant 34<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d 34<\/td>AD<\/td><\/tr>
CSNK2A1<\/td><\/td><\/td>AD<\/td><\/tr>
CTNND2<\/td>Developmental delay and seizures with or without movement abnormalities (DEDSM)<\/td>\u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u904b\u52d5\u7570\u5e38\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u4f5c (DEDSM)<\/td>AD<\/td><\/tr>
DHCR7<\/td>Smith-Lemli-Opitz syndrome<\/td>\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
EHMT1<\/td>Kleefstra syndrome<\/td>\u30af\u30ea\u30fc\u30d5\u30b9\u30c8\u30e9\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
EN2<\/td>Autism<\/td>\u81ea\u9589\u75c7<\/td>AD<\/td><\/tr>
FBXO11<\/td>Intellectual developmental disorder<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
FOXP1<\/td>Mental retardation with language impairment and autistic features, Congenital heart malformations<\/td>\u8a00\u8a9e\u969c\u5bb3\u304a\u3088\u3073\u81ea\u9589\u75c7\u7684\u7279\u5fb4\u3092\u4f34\u3046\u7cbe\u795e\u9045\u6ede\u3001\u5148\u5929\u6027\u5fc3\u81d3\u5947\u5f62<\/td>AD<\/td><\/tr>
GAMT<\/td>Guanidinoacetate methyltransferase deficiency<\/td>\u30b0\u30a2\u30cb\u30b8\u30ce\u9162\u9178\u30e1\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
KMT2E<\/td>Neurodevelopmental disorder<\/td>\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
KMT5B<\/td>Developmental delay and seizures with or without movement abnormalities (DEDSM), Autism spectrum disorder, overgrowth syndrome with intellectual disability<\/td>\u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u904b\u52d5\u7570\u5e38\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u4f5c\uff08DEDSM\uff09\u3001\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u904e\u6210\u9577\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
MBOAT7<\/td>Mental retardation, autosomal recessive 57<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 57<\/td>AR<\/td><\/tr>
MECP2<\/td>Angelman-like syndrome, Autism, Rett syndrome, Encephalopathy, Intellectual developmental disorder<\/td>\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u69d8\u75c7\u5019\u7fa4\u3001\u81ea\u9589\u75c7\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3001\u8133\u75c7\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>XL<\/td><\/tr>
MT-ATP6<\/td>Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrial<\/td>\u795e\u7d4c\u969c\u5bb3\u3001\u904b\u52d5\u5931\u8abf\u3001\u304a\u3088\u3073\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u904b\u52d5\u5931\u8abf\u304a\u3088\u3073\u591a\u767a\u6027\u795e\u7d4c\u969c\u5bb3\u3001\u6210\u4eba\u767a\u75c7\u3001\u5fc3\u7b4b\u75c7\u3001\u4e73\u5150\u80a5\u5927\u75c7\u3001\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u7dda\u6761\u4f53\u9ed2\u8cea\u5909\u6027\u75c7\u3001\u4e73\u5150\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-ATP8<\/td>Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophic<\/td>\u5fc3\u7b4b\u75c7\u3001\u5fc3\u5c16\u90e8\u80a5\u5927\u578b\u3001\u795e\u7d4c\u969c\u5bb3\u3001\u5fc3\u7b4b\u75c7\u3001\u4e73\u5150\u80a5\u5927\u578b<\/td>Mitochondrial<\/td><\/tr>
MT-CO1<\/td>Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiency, Deafness, mitochondrial<\/td>\u30df\u30aa\u30b0\u30ed\u30d3\u30f3\u5c3f\u75c7\u3001\u518d\u767a\u6027\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u9244\u82bd\u7403\u6027\u8ca7\u8840\u3001\u30c1\u30c8\u30af\u30ed\u30e0C\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\u3001\u96e3\u8074\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-CO2<\/td>Cytochrome c oxidase deficiency<\/td>\u30c1\u30c8\u30af\u30ed\u30e0C\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-CO3<\/td>Cytochrome c oxidase deficiency, Leber hereditary optic neuropathy<\/td>\u30c1\u30c8\u30af\u30ed\u30e0c\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-CYB<\/td><\/td><\/td>Mitochondrial<\/td><\/tr>
MT-ND1<\/td>Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u7b4b\u75c7\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u8996\u795e\u7d4c\u840e\u7e2e\u3001\u30b8\u30b9\u30c8\u30cb\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-ND2<\/td>Leber hereditary optic neuropathy, Mitochondrial complex I deficiency<\/td>\u30ec\u30d0\u30fc\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-ND3<\/td>Leber optic atrophy and dystonia, Mitochondrial complex I deficiency<\/td>\u30ec\u30fc\u30d9\u30eb\u8996\u795e\u7d4c\u840e\u7e2e\u304a\u3088\u3073\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-ND4<\/td>Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency<\/td>\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u8996\u795e\u7d4c\u840e\u7e2e\u304a\u3088\u3073\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-ND4L<\/td>Leber hereditary optic neuropathy<\/td>\u30ec\u30d0\u30fc\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-ND5<\/td>Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiency<\/td>\u4e0d\u898f\u5247\u306a\u8d64\u8272\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-ND6<\/td>Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3001\u30aa\u30f3\u30b3\u30b5\u30a4\u30c8\u30fc\u30de\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u8996\u795e\u7d4c\u840e\u7e2e\u304a\u3088\u3073\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-RNR1<\/td>Deafness, mitochondrial<\/td>\u96e3\u8074\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-RNR2<\/td>Chloramphenicol toxicity\/resistance<\/td>\u30af\u30ed\u30e9\u30e0\u30d5\u30a7\u30cb\u30b3\u30fc\u30eb\u306e\u6bd2\u6027\/\u8010\u6027<\/td>Mitochondrial<\/td><\/tr>
MT-TA<\/td><\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TC<\/td>Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9<\/td>Mitochondrial<\/td><\/tr>
MT-TD<\/td><\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TE<\/td>Diabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetes<\/td>\u7cd6\u5c3f\u75c5\u6027\u96e3\u8074\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u4e73\u5150\u3001\u4e00\u904e\u6027\u3001\u7cd6\u5c3f\u75c5\u3092\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc<\/td>Mitochondrial<\/td><\/tr>
MT-TF<\/td>Myoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes<\/td>\u4e0d\u898f\u5247\u306a\u8d64\u8272\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u6027\u3066\u3093\u304b\u3093\u3001\u814e\u75c7\u3001\u5c3f\u7d30\u7ba1\u9593\u8cea\u6027\u3001\u8133\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u3001\u3066\u3093\u304b\u3093\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8133\u7b4b\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-TG<\/td><\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TH<\/td><\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TI<\/td><\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TK<\/td>Myoclonic epilepsy with ragged red fibers, Leigh syndrome<\/td>\u4e0d\u898f\u5247\u306a\u8d64\u3044\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3001\u30ea\u30fc\u75c7\u5019\u7fa4<\/td>Mitochondrial<\/td><\/tr>
MT-TL1<\/td>Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility to<\/td>\u30c1\u30c8\u30af\u30ed\u30e0C\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\u3001\u4e0d\u898f\u5247\u306a\u8d64\u8272\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3001\u7cd6\u5c3f\u75c5\u96e3\u8074\u75c7\u5019\u7fa4\u3001\u5468\u671f\u6027\u5614\u5410\u75c7\u5019\u7fa4\u3001SIDS\u3001\u4ee5\u4e0b\u306b\u5bfe\u3059\u308b\u611f\u53d7\u6027<\/td>Mitochondrial<\/td><\/tr>
MT-TL2<\/td>Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Mitochondrial Myopathy, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3\u3001\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u7b4b\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8133\u7b4b\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-TM<\/td>Leigh syndrome, Mitochondrial multisystemic disorder<\/td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MT-TN<\/td>Progressive external ophthalmoplegia, Mitochondrial multisystemic disorder<\/td>\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MT-TP<\/td><\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TQ<\/td>Mitochondrial multisystemic disorder<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MT-TR<\/td>Encephalopathy, mitochondrial<\/td>\u8133\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-TS1<\/td>Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes<\/td>\u4e0d\u898f\u5247\u306a\u8d64\u3044\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u6027\u3066\u3093\u304b\u3093\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9<\/td>Mitochondrial<\/td><\/tr>
MT-TS2<\/td>Mitochondrial multisystemic disorder<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MT-TT<\/td><\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TV<\/td>Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Mitochondrial multisystemic disorder, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes<\/td>\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff08HCM\uff09\u3001\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8133\u7b4b\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-TW<\/td>Leigh syndrome, Myopathy, mitochondrial<\/td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-TY<\/td>Mitochondrial multisystemic disorder<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
NBEA<\/td>Epilepsy<\/td>\u3066\u3093\u304b\u3093<\/td>AD<\/td><\/tr>
NFIB<\/td>Macrocephaly<\/td>\u5927\u982d\u75c7<\/td>AD<\/td><\/tr>
NLGN3<\/td>Autism, Asperger syndrome<\/td>\u81ea\u9589\u75c7\u3001\u30a2\u30b9\u30da\u30eb\u30ac\u30fc\u75c7\u5019\u7fa4<\/td>XL<\/td><\/tr>
NLGN4X<\/td>Autism, Asperger syndrome, Intellectual developmental disorder<\/td>\u81ea\u9589\u75c7\u3001\u30a2\u30b9\u30da\u30eb\u30ac\u30fc\u75c7\u5019\u7fa4\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>XL<\/td><\/tr>
NSD1<\/td>Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndrome<\/td>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3001\u30a6\u30a3\u30fc\u30d0\u30fc\u75c7\u5019\u7fa4\u3001\u30d9\u30c3\u30af\u30a6\u30a3\u30ba\u30fb\u30f4\u30a3\u30fc\u30c7\u30de\u30f3\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
POGZ<\/td>Mental retardation, autosomal dominant 37 (White-Sutton syndrome)<\/td>\u7cbe\u795e\u9045\u6ede\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d 37 (\u30db\u30ef\u30a4\u30c8\u30b5\u30c3\u30c8\u30f3\u75c7\u5019\u7fa4)<\/td>AD<\/td><\/tr>
PTCHD1<\/td>Autism susceptibility, X-linked 4<\/td>\u81ea\u9589\u75c7\u611f\u53d7\u6027\u3001X\u9023\u93964<\/td>XL<\/td><\/tr>
PTEN<\/td>Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos syndrome, Cowden syndrome<\/td>\u30d0\u30ca\u30ca\u30e4\u30f3\u30fb\u30e9\u30a4\u30ea\u30fc\u30fb\u30eb\u30f4\u30a1\u30eb\u30ab\u30d0\u75c7\u5019\u7fa4\u3001\u30ec\u30eb\u30df\u30c3\u30c8\u30fb\u30c7\u30e5\u30af\u30ed\u75c7\u5019\u7fa4\u3001\u30ab\u30a6\u30c7\u30f3\u75c7\u5019\u7fa4<\/td>AD<\/td><\/tr>
RPL10<\/td>Autism<\/td>\u81ea\u9589\u75c7<\/td>XL<\/td><\/tr>
SHANK3<\/td>Phelan-McDermid syndrome, Schizophrenia 15<\/td>\u30d5\u30a7\u30e9\u30f3\u30fb\u30de\u30af\u30c0\u30fc\u30df\u30c9\u75c7\u5019\u7fa4\u3001\u7d71\u5408\u5931\u8abf\u75c7 15<\/td>AD<\/td><\/tr>
TBR1<\/td>Intellectual developmental disorder<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
TCF20<\/td>Developmental delay and seizures with or without movement abnormalities (DEDSM)<\/td>\u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u904b\u52d5\u7570\u5e38\u3092\u4f34\u3046\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u767a\u4f5c (DEDSM)<\/td>AD<\/td><\/tr>
TRIP12<\/td>Intellectual developmental disorder<\/td>\u77e5\u7684\u767a\u9054\u969c\u5bb3<\/td>AD<\/td><\/tr>
TSC1<\/td>Lymphangioleiomyomatosis, Tuberous sclerosis<\/td>\u30ea\u30f3\u30d1\u7ba1\u5e73\u7b4b\u816b\u75c7\u3001\u7d50\u7bc0\u6027\u786c\u5316\u75c7<\/td>AD<\/td><\/tr>
TSC2<\/td>Lymphangioleiomyomatosis, Tuberous sclerosis<\/td>\u30ea\u30f3\u30d1\u7ba1\u5e73\u7b4b\u816b\u75c7\u3001\u7d50\u7bc0\u6027\u786c\u5316\u75c7<\/td>AD<\/td><\/tr>
VAMP2<\/td><\/td><\/td>AD<\/td><\/tr>
WASF1<\/td>Intellectual disability and seizures<\/td>\u77e5\u7684\u969c\u5bb3\u3068\u767a\u4f5c<\/td>AD<\/td><\/tr>
ZSWIM6<\/td>Acromelic frontonasal dysostosis<\/td>\u5148\u7aef\u90e8\u524d\u9f3b\u8154\u9aa8\u7570\u5f62\u6210\u75c7<\/td>AD<\/td><\/tr><\/tbody><\/table><\/figure>\n

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