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Short stature due to partial GHR deficiency

ORPHA:314802 · Disease · Disorder

HPO 表現型（共 7 項）

Very frequent (99-80%)(4)

  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • Delayed skeletal maturationHP:0002750
  • Growth delayHP:0001510
  • Short statureHP:0004322

Occasional (29-5%)(3)

  • Delayed pubertyHP:0000823
  • HypoglycemiaHP:0001943
  • Midface retrusionHP:0011800