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Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Disease definition

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

ORPHA:168566

Classification level: Disorder
  • Synonym(s):
    • Fatal mitochondrial disease due to COXPD3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E88.8
  • OMIM: 610505
  • UMLS: C1864840
  • MeSH: -
  • GARD: -
  • MedDRA: -
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