combined oxidative phosphorylation deficiency 8 (DOID:0111479)
Alliance: disease page
Synonyms: COXPD8
Alt IDs: OMIM:614096, ORDO:319504
Definition: A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1.