Disease ID | Source | Name | Description |
614702 | OMIM | Combined oxidative phosphorylation deficiency 10 (COXPD10) | An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases. The disease is caused by variants affecting the gene represented in this entry. |