mitochondrial complex IV deficiency nuclear type 3 (DOID:0070492)
Alliance: disease page
Synonyms: MC4DN3
Alt IDs: OMIM:619046, UMLS_CUI:C5436682
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12.