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Non-acquired isolated growth hormone deficiency

ORPHA:631 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(4)

  • Anterior hypopituitarismHP:0000830
  • Delayed skeletal maturationHP:0002750
  • Growth delayHP:0001510
  • Short statureHP:0004322

Frequent (79-30%)(13)

  • Abdominal obesityHP:0012743
  • Abnormally high-pitched voiceHP:0001620
  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • Decreased muscle massHP:0003199
  • Decreased response to growth hormone stimulation testHP:0000824
  • Delayed pubertyHP:0000823
  • Depressed nasal bridgeHP:0005280
  • Doll-like faciesHP:0000295
  • Neonatal hypoglycemiaHP:0001998
  • Premature skin wrinklingHP:0100678
  • Prolonged neonatal jaundiceHP:0006579
  • Prominent foreheadHP:0011220
  • Sparse hairHP:0008070

Occasional (29-5%)(2)

  • Genu valgumHP:0002857
  • MicrophallusHP:0030260