label: Combined Oxidative Phosphorylation Deficiency 27
label_lc: combined oxidative phosphorylation deficiency 27
description: "An autosomal recessive condition caused by mutation(s) in the CARS2 gene, encoding probable cysteine--tRNA ligase, mitochondrial, resulting in a defect in the mitochondrial oxidative phosphorylation system. It is characterized by epileptic encephalopathy, and phenotypically variable clinical findings."