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Spinocerebellar ataxia type 6

ORPHA:98758 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(9)

  • BradyopsiaHP:0030511
  • Gait ataxiaHP:0002066
  • Gaze-evoked horizontal nystagmusHP:0007979
  • IncoordinationHP:0002311
  • Intention tremorHP:0002080
  • NystagmusHP:0000639
  • Postural instabilityHP:0002172
  • Progressive cerebellar ataxiaHP:0002073
  • Unsteady gaitHP:0002317

Frequent (79-30%)(7)

  • Abnormality of visionHP:0000504
  • Babinski signHP:0003487
  • Choking episodesHP:0030842
  • DiplopiaHP:0000651
  • DysphagiaHP:0002015
  • HyperreflexiaHP:0001347
  • Vertical nystagmusHP:0010544

Occasional (29-5%)(3)

  • BlepharospasmHP:0000643
  • DysarthriaHP:0001260
  • DystoniaHP:0001332