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Isolated complex III deficiency

Disease definition

Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ORPHA:1460

  • Synonym(s):
    • Isolated CoQ-cytochrome C reductase deficiency
    • Isolated coenzyme Q-cytochrome C reductase deficiency
    • Isolated mitochondrial respiratory chain complex III deficiency
    • Isolated ubiquinone-cytochrome C reductase deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive or Mitochondrial inheritance 
  • Age of onset: -
  • ICD-10: G71.3
  • OMIM: 124000  615157  615158  615159  615160  615453  615824  615838  616111
  • UMLS: -
  • MeSH: -
  • GARD: 8295
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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