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Familial paroxysmal ataxia

ORPHA:97 · Disease · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(3)

  • AtaxiaHP:0001251
  • NystagmusHP:0000639
  • VertigoHP:0002321

Frequent (79-30%)(7)

  • DiplopiaHP:0000651
  • DysarthriaHP:0001260
  • DystoniaHP:0001332
  • HemiplegiaHP:0002301
  • MigraineHP:0002076
  • Nausea and vomitingHP:0002017
  • TinnitusHP:0000360

Occasional (29-5%)(4)

  • Atypical behaviorHP:0000708
  • Cerebellar vermis atrophyHP:0006855
  • Intellectual disabilityHP:0001249
  • TorticollisHP:0000473