Orphanet: Combined oxidative phosphorylation defect type 20

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Combined oxidative phosphorylation defect type 20

Disease definition

Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).


Classification level: Disorder
  • Synonym(s):
    • COXPD20
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E88.8
  • OMIM: 615917
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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