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Usher syndrome type 3

ORPHA:231183 · Clinical subtype · Subtype of disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(9)

  • Abnormal cochlea morphologyHP:0000375
  • Abnormal electroretinogramHP:0000512
  • Iris hypopigmentationHP:0007730
  • NyctalopiaHP:0000662
  • Rod-cone dystrophyHP:0000510
  • ScotomaHP:0000575
  • Sensorineural hearing impairmentHP:0000407
  • Vestibular hyporeflexiaHP:0001756
  • Visual lossHP:0000572

Occasional (29-5%)(3)

  • Abnormal vestibular functionHP:0001751
  • AnxietyHP:0000739
  • DepressionHP:0000716