| Disease ID | Source | Name | Description |
| 220111 | OMIM | Mitochondrial complex IV deficiency, nuclear type 5 (MC4DN5) | An autosomal recessive, severe mitochondrial disease with multisystemic manifestations and early onset. Clinical features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. Brain imaging shows bilaterally symmetrical necrotic lesions in subcortical brain regions. Mortality is high, due to episodes of severe metabolic acidosis and coma. The disease is caused by variants affecting the gene represented in this entry. |