mitochondrial complex IV deficiency nuclear type 4 (DOID:0070493)
Alliance: disease page
Synonyms: MC4DN4
Alt IDs: OMIM:619048, UMLS_CUI:C5436683
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1.