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Short stature due to primary acid-labile subunit deficiency

ORPHA:140941 · Disease · Disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(4)

  • Decreased circulating insulin-like growth factor-binding protein acid labile subunit concentrationHP:0045046
  • Growth delayHP:0001510
  • Moderate postnatal growth retardationHP:0008855
  • Short statureHP:0004322

Frequent (79-30%)(3)

  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • Delayed pubertyHP:0000823
  • Insulin insensitivityHP:0008189

Occasional (29-5%)(3)

  • Decreased head circumferenceHP:0040195
  • Reduced bone mineral densityHP:0004349
  • Reduced circulating insulin-like growth factor 2 concentrationHP:6000404

Excluded (0%)(1)

  • Reduced circulating growth hormone concentrationHP:0034323