| Disease ID | Source | Name | Description |
| 619048 | OMIM | Mitochondrial complex IV deficiency, nuclear type 4 (MC4DN4) | An autosomal recessive mitochondrial disorder characterized by hypotonia, encephalopathy, metabolic acidosis, poor feeding, hepatomegaly, and hypertrophic cardiomyopathy in some patients. Death occurs in infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. The disease is caused by variants affecting the gene represented in this entry. |