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Congenital short bowel syndrome

ORPHA:2301 · Morphological anomaly · Disorder

HPO 表現型(共 7 項)

Very frequent (99-80%)(1)

  • Intestinal hypoplasiaHP:0005245

Frequent (79-30%)(5)

  • Cognitive impairmentHP:0100543
  • Intestinal malrotationHP:0002566
  • LipoatrophyHP:0100578
  • Short statureHP:0004322
  • Sparse hairHP:0008070

Occasional (29-5%)(1)

  • Displacement of the urethral meatusHP:0100627