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Usher syndrome

ORPHA:886 · Disease · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(10)

  • Abnormal electroretinogramHP:0000512
  • Abnormal retinal pigmentationHP:0007703
  • Abnormal vestibular functionHP:0001751
  • BlindnessHP:0000618
  • NyctalopiaHP:0000662
  • Progressive visual lossHP:0000529
  • Sensorineural hearing impairmentHP:0000407
  • Vestibular areflexiaHP:0008568
  • Visual field defectHP:0001123
  • Visual impairmentHP:0000505

Frequent (79-30%)(4)

  • AtaxiaHP:0001251
  • CataractHP:0000518
  • High hypermetropiaHP:0008499
  • MyopiaHP:0000545

Occasional (29-5%)(23)

  • Abnormal cardiovascular system physiologyHP:0011025
  • Abnormal dental enamel morphologyHP:0000682
  • Abnormality of dental colorHP:0011073
  • AnxietyHP:0000739
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • AstigmatismHP:0000483
  • Carious teethHP:0000670
  • Cerebral cortical atrophyHP:0002120
  • ClumsinessHP:0002312
  • Delayed ability to walkHP:0031936
  • Delayed gross motor developmentHP:0002194
  • DepressionHP:0000716
  • EMG abnormalityHP:0003457
  • Floppy infantHP:0008947
  • HallucinationsHP:0000738
  • HyperacusisHP:0010780
  • Hypertrophic cardiomyopathyHP:0001639
  • MicrodontiaHP:0000691
  • MyopathyHP:0003198
  • NystagmusHP:0000639
  • Peripheral visual field lossHP:0007994
  • PsychosisHP:0000709
  • TinnitusHP:0000360