mitochondrial complex IV deficiency nuclear type 23 (DOID:0070485)
Alliance: disease page
Synonyms: MC4DN23
Alt IDs: OMIM:620275, UMLS_CUI:C5830322
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.