| Disease ID | Source | Name | Description |
| 615824 | OMIM | Mitochondrial complex III deficiency, nuclear 7 (MC3DN7) | A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN7 is characterized by severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction. Additional clinical features include a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss. The disease is caused by variants affecting the gene represented in this entry. |