| Term Name: | mitochondrial complex IV deficiency nuclear type 14 |
|---|---|
| Synonyms: | MC4DN14 |
| Definition: | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. |
| Ontology: | Human Disease [DOID:0070499] ( DOID:0070499 ) |