| Disease ID | Source | Name | Description |
| 604273 | OMIM | Mitochondrial complex V deficiency, nuclear type 1 (MC5DN1) | A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. The disease is caused by variants affecting the gene represented in this entry. |