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Rapid-onset dystonia-parkinsonism

ORPHA:71517 · Disease · Disorder

HPO 表現型（共 20 項）

Frequent (79-30%)(13)

  • BradykinesiaHP:0002067
  • Craniofacial dystoniaHP:0012179
  • DroolingHP:0002307
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Gait ataxiaHP:0002066
  • Hypomimic faceHP:0000338
  • Limb dystoniaHP:0002451
  • Motor delayHP:0001270
  • MutismHP:0002300
  • ParkinsonismHP:0001300
  • Postural instabilityHP:0002172
  • TorticollisHP:0000473

Occasional (29-5%)(6)

  • AnxietyHP:0000739
  • Cerebellar atrophyHP:0001272
  • DepressionHP:0000716
  • Emotional labilityHP:0000712
  • Resting tremorHP:0002322
  • SeizureHP:0001250

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

  • Generalized hypotoniaHP:0001290