combined oxidative phosphorylation deficiency 3 (DOID:0111486)
Alliance: disease page
Synonyms: concentric cardiomyopathy, hypotonia, and lactic acidosis; COXPD3; encephalomyopathy, respiratory failure, and lactic acidosis; fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3; Fatal mitochondrial disease due to COXPD3
Alt IDs: OMIM:610505, MESH:C566467, ORDO:168566, UMLS_CUI:C1864840
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.