| Disease ID | Source | Name | Description |
| 615578 | OMIM | Combined oxidative phosphorylation deficiency 18 (COXPD18) | An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia. The disease is caused by variants affecting the gene represented in this entry. |