| Term Name: | mitochondrial complex IV deficiency nuclear type 23 |
|---|---|
| Synonyms: | MC4DN23 |
| Definition: | A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. |
| Ontology: | Human Disease [DOID:0070485] ( DOID:0070485 ) |