| Disease ID | Source | Name | Description |
| 610678 | OMIM | Combined oxidative phosphorylation deficiency 4 (COXPD4) | A mitochondrial disease resulting in neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes. The disease is caused by variants affecting the gene represented in this entry. |