Orphanet: Combined oxidative phosphorylation defect type 2

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Combined oxidative phosphorylation defect type 2

Disease definition

Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.


Classification level: Disorder
  • Synonym(s):
    • COXPD2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E88.8
  • OMIM: 610498
  • UMLS: C1864843
  • MeSH: -
  • GARD: -
  • MedDRA: -
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