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Dystonia 16

ORPHA:210571 · Disease · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(1)

  • Limb dystoniaHP:0002451

Frequent (79-30%)(12)

  • Abnormal pyramidal signHP:0007256
  • BradykinesiaHP:0002067
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • HyperreflexiaHP:0001347
  • Lower limb painHP:0012514
  • Orofacial dyskinesiaHP:0002310
  • ParkinsonismHP:0001300
  • Postural tremorHP:0002174
  • TorticollisHP:0000473
  • Unsteady gaitHP:0002317

Occasional (29-5%)(1)

  • Motor delayHP:0001270

Very rare (<4-1%)(1)

  • Intellectual disabilityHP:0001249