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Episodic ataxia type 7

ORPHA:209970 · Disease · Disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(4)

  • DysarthriaHP:0001260
  • Episodic ataxiaHP:0002131
  • Muscle weaknessHP:0001324
  • VertigoHP:0002321

Frequent (79-30%)(1)

  • NystagmusHP:0000639

Occasional (29-5%)(6)

  • Cognitive impairmentHP:0100543
  • DiplopiaHP:0000651
  • Hyperkinetic movementsHP:0002487
  • MigraineHP:0002076
  • MyokymiaHP:0002411
  • TinnitusHP:0000360