| Disease ID | Source | Name | Description |
| 616672 | OMIM | Combined oxidative phosphorylation deficiency 27 (COXPD27) | An autosomal recessive mitochondrial disorder characterized by multiple mitochondrial respiratory-chain-complex deficiencies causing neurological regression, progressive cognitive decline, complex movement disorder, epileptic encephalopathy, progressive spastic tetraparesis, and progressive impairment of vision and hearing. The disease is caused by variants affecting the gene represented in this entry. |