| Term Name: | combined oxidative phosphorylation deficiency 39 |
|---|---|
| Synonyms: | COXPD39 |
| Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. |
| Ontology: | Human Disease [DOID:0111475] ( DOID:0111475 ) |