| Disease ID | Source | Name | Description |
| 615917 | OMIM | Combined oxidative phosphorylation deficiency 20 (COXPD20) | A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy. The disease is caused by variants affecting the gene represented in this entry. |