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X-linked intellectual disability with isolated growth hormone deficiency

ORPHA:67045 · Clinical subtype · Subtype of disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(4)

  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • Decreased response to growth hormone stimulation testHP:0000824
  • Intellectual disabilityHP:0001249
  • Short statureHP:0004322

Occasional (29-5%)(10)

  • Abnormal myelinationHP:0012447
  • Abnormal saccadic eye movementsHP:0000570
  • Anterior pituitary hypoplasiaHP:0010627
  • Delayed skeletal maturationHP:0002750
  • Ectopic posterior pituitaryHP:0011755
  • Gaze-evoked horizontal nystagmusHP:0007979
  • Hypoplasia of the corpus callosumHP:0002079
  • Mild global developmental delayHP:0011342
  • Oculomotor apraxiaHP:0000657
  • Small posterior fossaHP:0040010