← 返回搜尋

Usher syndrome type 1

ORPHA:231169 · Clinical subtype · Subtype of disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(7)

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

Frequent (79-30%)(7)

  • Abnormal vestibular functionHP:0001751
  • CataractHP:0000518
  • Delayed speech and language developmentHP:0000750
  • Gait imbalanceHP:0002141
  • Motor delayHP:0001270
  • Peripheral visual field lossHP:0007994
  • Reduced visual acuityHP:0007663

Occasional (29-5%)(2)

  • AnxietyHP:0000739
  • DepressionHP:0000716