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GENATLAS PHENOTYPE
last update : 15-10-2013
Symbol MMACHX
Location Xq28
Name combined methylmalonic acidemia and hyperhomocysteinemia, cblX type
Corresponding gene HCFC1
Main clinical features
  • severe neurological symptoms, which primarily include intractable epilepsy and neurocognitive impairment, profound developmental delay, microcephaly, movement disorders
  • onset was either in the prenatal period or in early infancy
  • Genetic determination sex linked
    Function/system disorder mental retardation
    mental retardation
    Type disease
    Remark(s)