| Disease ID | Source | Name | Description |
| 619046 | OMIM | Mitochondrial complex IV deficiency, nuclear type 3 (MC4DN3) | An autosomal recessive mitochondrial disorder characterized by cytochrome c oxidase deficiency. Clinical features include muscle weakness, hypotonia, ataxia, ptosis, metabolic acidosis, poor feeding, delayed motor development, anemia, sensorineural hearing loss, and cardiomyopathy. The disease is caused by variants affecting the gene represented in this entry. |