| Disease ID | Source | Name | Description |
| 615159 | OMIM | Mitochondrial complex III deficiency, nuclear 4 (MC3DN4) | A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. The disease is caused by variants affecting the gene represented in this entry. |