Combined Oxidative Phosphorylation Deficiency 8

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - COXPD8 - Combined Oxidative Phosphorylation Defect Type 8