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Episodic ataxia with slurred speech

ORPHA:401953 · Disease · Disorder

HPO 表現型（共 10 項）

Very frequent (99-80%)(3)

  • Muscle weaknessHP:0001324
  • Postural instabilityHP:0002172
  • Slurred speechHP:0001350

Frequent (79-30%)(5)

  • Abnormal involuntary eye movementsHP:0012547
  • DysarthriaHP:0001260
  • Gait ataxiaHP:0002066
  • NystagmusHP:0000639
  • TremorHP:0001337

Occasional (29-5%)(2)

  • MigraineHP:0002076
  • MyokymiaHP:0002411