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Perrault syndrome

ORPHA:2855 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(2)

  • Increased circulating gonadotropin levelHP:0000837
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(4)

  • Hypoplasia of the uterusHP:0000013
  • Premature ovarian insufficiencyHP:0008209
  • Primary amenorrheaHP:0000786
  • Streak ovaryHP:0010464

Occasional (29-5%)(13)

  • Abnormal pyramidal signHP:0007256
  • AtaxiaHP:0001251
  • AzoospermiaHP:0000027
  • Bicornuate uterusHP:0000813
  • Cleft palateHP:0000175
  • Disproportionate tall statureHP:0001519
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • ObesityHP:0001513
  • OligomenorrheaHP:0000876
  • Peripheral axonal neuropathyHP:0003477
  • Secondary amenorrheaHP:0000869
  • Specific learning disabilityHP:0001328