| Term Name: | combined oxidative phosphorylation deficiency 57 |
|---|---|
| Synonyms: | COXPD57 |
| Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. |
| Ontology: | Human Disease [DOID:0070430] ( DOID:0070430 ) |