Combined Oxidative Phosphorylation Deficiency 1

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - COXPD1