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Usher syndrome type 2

ORPHA:231178 · Clinical subtype · Subtype of disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(7)

  • Abnormal electroretinogramHP:0000512
  • Abnormality of the inner earHP:0000359
  • Iris hypopigmentationHP:0007730
  • Rod-cone dystrophyHP:0000510
  • ScotomaHP:0000575
  • Sensorineural hearing impairmentHP:0000407
  • Visual lossHP:0000572

Frequent (79-30%)(8)

  • CataractHP:0000518
  • Constriction of peripheral visual fieldHP:0001133
  • FatigueHP:0012378
  • MyopiaHP:0000545
  • NyctalopiaHP:0000662
  • Peripheral visual field lossHP:0007994
  • Reduced visual acuityHP:0007663
  • Sleep disturbanceHP:0002360

Occasional (29-5%)(5)

  • AnxietyHP:0000739
  • Color vision defectHP:0000551
  • DepressionHP:0000716
  • Gait imbalanceHP:0002141
  • Reduced contrast sensitivityHP:0032036

Very rare (<4-1%)(1)

  • Abnormal vestibular functionHP:0001751