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Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

ORPHA:88643 · Disease · Disorder

HPO 表現型(共 7 項)

Frequent (79-30%)(7)

  • CardiomegalyHP:0001640
  • ColitisHP:0002583
  • Congenital hypothyroidismHP:0000851
  • CraniosynostosisHP:0001363
  • Global developmental delayHP:0001263
  • HypoalbuminemiaHP:0003073
  • ObesityHP:0001513