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Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

ORPHA:2235 · Disease · Disorder

HPO 表現型（共 20 項）

Obligate (100%)(3)

  • Hypogonadotropic hypogonadismHP:0000044
  • Pigmentary retinopathyHP:0000580
  • Rod-cone dystrophyHP:0000510

Very frequent (99-80%)(12)

  • Absence of secondary sex characteristicsHP:0008187
  • Anterior hypopituitarismHP:0000830
  • Breast hypoplasiaHP:0003187
  • Decreased fertilityHP:0000144
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • Gonadotropin-releasing hormone deficiencyHP:0003164
  • Hypoplasia of the ovaryHP:0008724
  • OsteoporosisHP:0000939
  • Primary amenorrheaHP:0000786
  • Reduced circulating prolactin concentrationHP:0008202
  • Secondary growth hormone deficiencyHP:0008240

Frequent (79-30%)(5)

  • Abnormality of the dentitionHP:0000164
  • ObesityHP:0001513
  • Recurrent fracturesHP:0002757
  • Reduced bone mineral densityHP:0004349
  • Short statureHP:0004322