From: Clinical Genetics in Japan: Efforts of Human Genetics Societies and Related Organizations
| Amyotrophic lateral sclerosis (OPTN) |
| Argininemia (ARG1) |
| AR Spinocerebellar ataxia (SYT14) |
| Axial spondylometaphyseal dysplasia (C21orf2) |
| Beta ketothiolase deficiency (ACAT1) |
| BH4-responsive phenylketonuria (PAH) |
| Camurati-Engelmann disease (TGFB1) |
| Charcot-Marie-Tooth disease type 1B (MPZ) |
| Chediak-Higashi syndrome (LYST) |
| Citrin deficiency (SLC25A13) |
| Coffin-Siris syndrome (SWI/SNF genes, SOX11) |
| Congenital insensitivity to pain with anhidrosis (NTRK1) |
| DRPLA (ATN1) |
| Ehlers-Danlos syndrome, Kosho type (CHST14) |
| Familial polyposis/colon cancer (APC) |
| Fukuyama congenital muscular dystrophy (FKTN) |
| Glycosylation disorder (COG2, PIGG) |
| HCAHC (POLR3A, POLR3B) |
| Hypospadias (MAMLD1 (CXorf6) ) |
| Hypothalamic hamartomas (OFD1, GLI3) |
| Kabuki syndrome (KDM6A) |
| Kagami-Ogata syndrome (UPD(14)pat) |
| Leigh syndrome (GYG2) |
| Mabry syndrome (PIGL) |
| Machado-Joseph disease (ATNX3) |
| Marfan syndrome type 2 (TGFBR2) |
| MELAS syndrome (MT-TL1) |
| Microphthalmia syndrome (SMOC1) |
| Morquio syndrome (GALNS) |
| Moyamoya disease (RNF213) |
| Multiple carboxylase deficiency (HLCS) |
| Nemaline myopathy (KLHL40) |
| Nijmegen breakage syndrome (NBS1) |
| Non-ketotic hyperglycinemia (GLDC, AMT, GCSH) |
| Ohtahara syndrome (STXBP1, KCNQ2, CASK, GNAO1） |
| Peroxisomal disorders |
| Porencephaly (COL4A2) |
| Primary systemic carnitine deficiency (SLC22A5) |
| Prolidase deficiency (PEPD) |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia (MECOM) |
| RASopathies |
| Costello syndrome (HRAS) |
| CFC syndrome (KRAS, BRAF) |
| Noonan syndrome (RIT1) |
| Schizencephaly (COL4A1) |
| Segawa syndrome (TH) |
| SEMD-JL1 (B3GALT6) |
| SENDA (WDR45) |
| Sotos syndrome (NSD1) |
| Spinal extradural arachnoid cyst (HOXD4) |
| Steroid-resistant nephrotic syndrome (NUP107) |
| Takenouchi-Kosaki syndrome (CDC42) |
| Tarui disease (glycogen storage disease, type VII)(PFKM) |
| Tyrosinemia type III (HPD) |
| Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL) |
| West syndrome (SPTAN1) |
| Xeroderma pigmentosum, group A (XPA) |
