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GENATLAS PHENOTYPE
last update : 25-03-2009
Symbol NDUFA11D
Location 19p13.3
Name NDUFA11 deficiency
Corresponding gene NDUFA11
Main clinical features
  • complex I deficiency presenting with infantile lactic acidemia or encephalocardiomyopathy (Berger 2008)
  • severe neonatal lactic acidosis, Leigh's disease, or various combinations of cardiac, hepatic, and renal disorders
  • Genetic determination
    Function/system disorder
    Type disease
    Remark(s)