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Pituitary stalk interruption syndrome

ORPHA:95496 · Morphological anomaly · Disorder

HPO 表現型（共 17 項）

Obligate (100%)(1)

  • Ectopic posterior pituitaryHP:0011755

Very frequent (99-80%)(3)

  • Abnormality of the hypothalamus-pituitary axisHP:0000864
  • Failure to thriveHP:0001508
  • Short statureHP:0004322

Frequent (79-30%)(4)

  • Delayed pubertyHP:0000823
  • HypoglycemiaHP:0001943
  • Hypoplasia of penisHP:0008736
  • HypothyroidismHP:0000821

Occasional (29-5%)(9)

  • Adrenal hypoplasiaHP:0000835
  • CryptorchidismHP:0000028
  • Death in infancyHP:0001522
  • Diabetes insipidusHP:0000873
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Primary amenorrheaHP:0000786
  • SeizureHP:0001250
  • Septo-optic dysplasiaHP:0100842