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GENATLAS PHENOTYPE
last update : 04-09-2018
Symbol CSID
Location 3q26.1
Name sucrase-isomaltase deficiency
Other name(s)
  • sucrase-isomaltase deficiency, congenital
  • sucrose-isomaltase malabsorption, congenital
  • disaccharide intolerance, sucrose intolerance
  • Corresponding gene SI
    Main clinical features osmotic diarrhea when the disaccharide is ingested, onset of symptoms ranged from 2 to 16 weeks, delayed diagnosis led to severe malnutrition in these infants
    Genetic determination autosomal recessive
    Function/system disorder digestive tract/gastrointestinal
    Type disease
    Gene product
    Name sucrase-isomaltase
    Remark(s)