Human genes for combined oxidative phosphorylation deficiency 3
Combined oxidative phosphorylation deficiency 3 [DOID:0111486]
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.
Synonyms: combined oxidative phosphorylation deficiency 3, DOID:0111486, COXPD3, Fatal mitochondrial disease due to COXPD3, concentric cardiomyopathy, hypotonia, and lactic acidosis ...