| Disease ID | Source | Name | Description |
| 617872 | OMIM | Combined oxidative phosphorylation deficiency 34 (COXPD34) | An autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure. The disease is caused by variants affecting the gene represented in this entry. |