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GENATLAS PHENOTYPE
last update : 13/12/2008
Symbol NDUFA1D
Location Xq24
Name NDUFA1 deficiency
Corresponding gene NDUFA1
Main clinical features
  • complex I deficiency, mitochondrial encephalomyopathy
  • Leigh's syndrome, myoclonic epilepsy and developmental delay, macrocephaly with progressive leukodystrophy, nonspecific encephalopathy,
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)