← 返回搜尋

Hypergonadotropic hypogonadism-cataract syndrome

ORPHA:2410 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Obligate (100%)(2)

  • CataractHP:0000518
  • Hypergonadotropic hypogonadismHP:0000815

Very frequent (99-80%)(8)

  • Absence of secondary sex characteristicsHP:0008187
  • Decreased fertilityHP:0000144
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • Increased circulating gonadotropin levelHP:0000837
  • OsteoporosisHP:0000939
  • Primary amenorrheaHP:0000786
  • Secondary growth hormone deficiencyHP:0008240

Frequent (79-30%)(3)

  • Recurrent fracturesHP:0002757
  • Reduced bone mineral densityHP:0004349
  • Short statureHP:0004322