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Dystonia-aphonia syndrome

ORPHA:412217 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(6)

  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Gait disturbanceHP:0001288
  • Generalized dystoniaHP:0007325
  • Impaired masticationHP:0005216
  • Tongue muscle weaknessHP:0000183

Frequent (79-30%)(12)

  • Abnormal mitochondrial shapeHP:0012087
  • Abnormal urinary odorHP:0012088
  • Abnormal vocal cord morphologyHP:0008777
  • AnarthriaHP:0002425
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • MacroglossiaHP:0000158
  • Mixed demyelinating and axonal polyneuropathyHP:0007327
  • Oromandibular dystoniaHP:0012048
  • SeizureHP:0001250
  • Slowed horizontal saccadesHP:0007885
  • Unsteady gaitHP:0002317

Occasional (29-5%)(6)

  • AnxietyHP:0000739
  • Cognitive impairmentHP:0100543
  • DysphoniaHP:0001618
  • Gingival overgrowthHP:0000212
  • Global developmental delayHP:0001263
  • MyoclonusHP:0001336