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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 18/10/2008
Symbol PBAM
Location 13q33
Name primary bile acid malabsorption
Corresponding gene SLC10A2
Main clinical features
  • steatorrhea and diarrhea within the first few days of life, and failure to thrive
  • reduced plasma cholesterol, while fecal bile acid content and total stool output are markedly increased
  • Genetic determination not applicable
    Function/system disorder digestive tract/gastrointestinal
    Type disease
    Gene product
    Name solute carrier family 10, member 2 (SLC10A2)
    Remark(s)