OMIM |
OMIM:617914 |
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20 |
— |
— |
— |
OMIM |
OMIM:617915 |
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS |
— |
— |
— |
OMIM |
OMIM:617916 |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7 |
— |
— |
— |
OMIM |
OMIM:617917 |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8 |
— |
— |
— |
OMIM |
OMIM:617920 |
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3; PLCA3 |
— |
— |
— |
OMIM |
OMIM:617921 |
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25; ALS25 |
— |
— |
— |
OMIM |
OMIM:617924 |
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10; EJM10 |
— |
— |
— |
OMIM |
OMIM:617925 |
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20 |
— |
— |
— |
OMIM |
OMIM:617926 |
OROFACIODIGITAL SYNDROME XVII; OFD17 |
— |
— |
— |
OMIM |
OMIM:617927 |
OROFACIODIGITAL SYNDROME XVIII; OFD18 |
— |
— |
— |
OMIM |
OMIM:617928 |
KERATOCONUS 9; KTCN9 |
— |
— |
— |
OMIM |
OMIM:617929 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60 |
— |
— |
— |
OMIM |
OMIM:617930 |
CHROMOSOME 1p35 DELETION SYNDROME |
— |
— |
— |
OMIM |
OMIM:617931 |
SPINOCEREBELLAR ATAXIA 47; SCA47 |
— |
— |
— |
OMIM |
OMIM:617933 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61; EIEE61 |
— |
— |
— |
OMIM |
OMIM:617935 |
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4; FFEVF4 |
— |
— |
— |
OMIM |
OMIM:617936 |
BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED |
— |
— |
— |
OMIM |
OMIM:617938 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62 |
— |
— |
— |
OMIM |
OMIM:617941 |
SHWACHMAN-DIAMOND SYNDROME 2; SDS2 |
— |
— |
— |
OMIM |
OMIM:617948 |
ELLIPTOCYTOSIS 3; EL3 |
— |
— |
— |
OMIM |
OMIM:617950 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36 |
— |
— |
— |
OMIM |
OMIM:617951 |
LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15 |
— |
— |
— |
OMIM |
OMIM:617952 |
OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18 |
— |
— |
— |
OMIM |
OMIM:617953 |
HYPERTHYROXINEMIA, EUTHYROID, CAUSED BY GENERALIZED 5-PRIME-DEIODINASE DEFICIENCY |
— |
— |
— |
OMIM |
OMIM:617954 |
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6 |
— |
— |
— |