| Term Name: | combined oxidative phosphorylation deficiency 33 |
|---|---|
| Synonyms: | COXPD33 |
| Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. |
| Ontology: | Human Disease [DOID:0111495] ( DOID:0111495 ) |