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GENATLAS PHENOTYPE
last update : 09-07-2009
Symbol CFM
Location 17q11.2
Name congenital folate malabsorption
Other name(s) hereditary folate malabsorption
Corresponding gene SLC46A1
Other symbol(s) HFM
Main clinical features
  • manifestation within the first months after birth with anemia, immune deficiency, and neurological deficits
  • recurrent megaloblastic anemia, mental retardation, convulsions, movement disorder
  • diarrhea, susceptibility to infections
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types      
    Remark(s)
    Genotype/Phenotype correlations folate supplements allow patients to develop normally and to remain well