Human genes for combined oxidative phosphorylation deficiency 17
Combined oxidative phosphorylation deficiency 17 [DOID:0111496]
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 ELAC2 on chromosome 17p12.
Synonyms: combined oxidative phosphorylation deficiency 17, DOID:0111496, COXPD17