Term Name:	combined oxidative phosphorylation deficiency 8
Synonyms:	COXPD8
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.
Ontology:	Human Disease [DOID:0111479]   ( DOID:0111479 )