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Short stature due to GHSR deficiency

ORPHA:314811 · Disease · Disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(9)

  • Abdominal painHP:0002027
  • Decreased body weightHP:0004325
  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • Delayed skeletal maturationHP:0002750
  • Growth delayHP:0001510
  • HypoglycemiaHP:0001943
  • KetosisHP:0001946
  • Short statureHP:0004322
  • VomitingHP:0002013

Frequent (79-30%)(1)

  • Abnormality of body weightHP:0004323

Occasional (29-5%)(1)

  • Delayed pubertyHP:0000823