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Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome

ORPHA:231720 · Malformation syndrome · Disorder

HPO 表現型（共 10 項）

Very frequent (99-80%)(9)

  • Anterior pituitary hypoplasiaHP:0010627
  • Decreased response to growth hormone stimulation testHP:0000824
  • Gonadotropin deficiencyHP:0008213
  • Hypothalamic luteinizing hormone-releasing hormone deficiencyHP:0012287
  • Pituitary hypothyroidismHP:0008245
  • Sensorineural hearing impairmentHP:0000407
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Thoracolumbar kyphoscoliosisHP:0003423

Occasional (29-5%)(1)

  • Adrenocorticotropic hormone deficiencyHP:0011748