| Disease ID | Source | Name | Description |
| 616811 | OMIM | Combined oxidative phosphorylation deficiency 29 (COXPD29) | An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy. The disease is caused by variants affecting the gene represented in this entry. |