has material basis in germline mutation in AARS2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 8 https://www.malacards.org/card/combined_oxidative_phosphorylation_deficiency_8 OMIM:614096 combined oxidative phosphorylation deficiency 8 SCTID:733600007 COXPD8 combined oxidative phosphorylation deficiency caused by mutation in AARS2 MEDGEN:1377817 Orphanet:319504 GARD:0017452 AARS2 combined oxidative phosphorylation deficiency UMLS:C4518839 combined oxidative phosphorylation deficiency type 8 MONDO:0013570 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. DOID:0111479