Orphanet: Combined oxidative phosphorylation defect type 25
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Combined oxidative phosphorylation defect type 25

Disease definition

Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.

ORPHA:447954

Classification level: Disorder
  • Synonym(s):
    • COXPD25
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E88.8
  • OMIM: 616430
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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