A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.
synonyms:
UMLS_CUI:C1864840,
COXPD3,
encephalomyopathy, respiratory failure, and lactic acidosis,
OMIM:610505,
MESH:C566467,
610505,
ORDO:168566,
concentric cardiomyopathy, hypotonia, and lactic acidosis,
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,
