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Congenital sucrase-isomaltase deficiency

ORPHA:35122 · Disease · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(2)

  • Abdominal painHP:0002027
  • DiarrheaHP:0002014

Frequent (79-30%)(6)

  • ConstipationHP:0002019
  • FlatulenceHP:0033589
  • Gastroesophageal refluxHP:0002020
  • NauseaHP:0002018
  • Poor appetiteHP:0004396
  • VomitingHP:0002013

Occasional (29-5%)(5)

  • Abdominal colicHP:0011848
  • Abdominal distentionHP:0003270
  • Bloody diarrheaHP:0025085
  • Bowel incontinenceHP:0002607
  • FatigueHP:0012378

Very rare (<4-1%)(1)

  • Failure to thriveHP:0001508