Combined Oxidative Phosphorylation Deficiency 23

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the GTPBP3 gene, encoding tRNA modification GTPase GTPBP3, mitochondrial. It is characterized by childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms.

**Synonyms:** - COXPD23