label: Combined Oxidative Phosphorylation Deficiency 8
label_lc: combined oxidative phosphorylation deficiency 8
description: "An autosomal recessive condition caused by mutation(s) in the AARS2 gene, encoding alanine--tRNA ligase, mitochondrial. It is characterized by lethal infantile hypertrophic cardiomyopathy. Skeletal and brain involvement may be apparent."