combined oxidative phosphorylation deficiency 10 (DOID:0111480)
Alliance: disease page
Synonyms: COXPD10; infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis; mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Alt IDs: OMIM:614702, ORDO:314637
Definition: A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13.