| Disease ID | Source | Name | Description |
| 610505 | OMIM | Combined oxidative phosphorylation deficiency 3 (COXPD3) | A mitochondrial disease resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes. The disease is caused by variants affecting the gene represented in this entry. |