Term Name: combined oxidative phosphorylation deficiency 10
Synonyms: COXPD10, infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis, mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
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.
Ontology: Human Disease [DOID:0111480]   ( DOID:0111480 )

Relationships
is a type of: autosomal recessive disease combined oxidative phosphorylation deficiency