| OMIM |
OMIM:616192 |
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD |
— |
— |
— |
| OMIM |
OMIM:616193 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47 |
— |
— |
— |
| OMIM |
OMIM:616198 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 |
— |
— |
— |
| OMIM |
OMIM:616199 |
POLYGLUCOSAN BODY MYOPATHY 2; PGBM2 |
— |
— |
— |
| OMIM |
OMIM:616200 |
RUIJS-AALFS SYNDROME; RJALS |
— |
— |
— |
| OMIM |
OMIM:616201 |
CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID |
— |
— |
— |
| OMIM |
OMIM:616202 |
CEREBELLOFACIODENTAL SYNDROME; CFDS |
— |
— |
— |
| OMIM |
OMIM:616204 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 |
— |
— |
— |
| OMIM |
OMIM:616208 |
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS22 |
— |
— |
— |
| OMIM |
OMIM:616209 |
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT; IMMD |
— |
— |
— |
| OMIM |
OMIM:616211 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28 |
— |
— |
— |
| OMIM |
OMIM:616212 |
LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6 |
— |
— |
— |
| OMIM |
OMIM:616214 |
HYPERPROINSULINEMIA |
— |
— |
— |
| OMIM |
OMIM:616216 |
THROMBOCYTOPENIA 5; THC5 |
— |
— |
— |
| OMIM |
OMIM:616217 |
NEPHRONOPHTHISIS 19; NPHP19 |
— |
— |
— |
| OMIM |
OMIM:616219 |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; CFEOM5 |
— |
— |
— |
| OMIM |
OMIM:616220 |
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9; FSGS9 |
— |
— |
— |
| OMIM |
OMIM:616221 |
AMELOGENESIS IMPERFECTA, TYPE IH; AI1H |
— |
— |
— |
| OMIM |
OMIM:616222 |
TEMPLE SYNDROME |
— |
— |
— |
| OMIM |
OMIM:616224 |
MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22 |
— |
— |
— |
| OMIM |
OMIM:616227 |
MYASTHENIC SYNDROME, CONGENITAL, 15; CMS15 |
— |
— |
— |
| OMIM |
OMIM:616228 |
MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14 |
— |
— |
— |
| OMIM |
OMIM:616229 |
OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 |
— |
— |
— |
| OMIM |
OMIM:616230 |
EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8 |
— |
— |
— |
| OMIM |
OMIM:616231 |
MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES; VMCQA |
— |
— |
— |