Combined oxidative phosphorylation deficiency 7
A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness.
| Name | Development Level | Target Family |
|---|
| Name | Description |
|---|
TCRDv4.6.9
UniProt Disease
UniProt Disease