Combined Oxidative Phosphorylation Deficiency 27

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - COXPD27