| Term Name: | combined oxidative phosphorylation deficiency 41 |
|---|---|
| Synonyms: | COXPD41 |
| Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. |
| Ontology: | Human Disease [DOID:0112119] ( DOID:0112119 ) |