label: Combined Oxidative Phosphorylation Deficiency 23
label_lc: combined oxidative phosphorylation deficiency 23
description: 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.