label: Combined Oxidative Phosphorylation Deficiency 1
label_lc: combined oxidative phosphorylation deficiency 1
description: "A progressive, fatal autosomal recessive disorder. It results from a defect in the mitochondrial oxidative phosphorylation system. It manifests with growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction."