Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement. The disease is combined oxidative phosphorylation defect type 8 (MONDO_0013570). Also known as: AARS2 combined oxidative phosphorylation deficiency, COXPD8, combined oxidative phosphorylation deficiency caused by mutation in AARS2, combined oxidative phosphorylation deficiency type 8.