Term Name: combined oxidative phosphorylation deficiency 17
Synonyms: COXPD17
Definition: A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12.
Ontology: Human Disease [DOID:0111496]   ( DOID:0111496 )

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