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Dystonia 28

ORPHA:589618 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(2)

  • Generalized dystoniaHP:0007325
  • Globus pallidus hypointensity on susceptibility-weighted imagingHP:0033049

Frequent (79-30%)(8)

  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Intellectual disabilityHP:0001249
  • Leg dystoniaHP:0031959
  • MicrocephalyHP:0000252
  • Neurodevelopmental delayHP:0012758
  • Short statureHP:0004322
  • TorticollisHP:0000473

Occasional (29-5%)(15)

  • Abnormal pyramidal signHP:0007256
  • AnarthriaHP:0002425
  • AnxietyHP:0000739
  • Arm dystoniaHP:0031960
  • Attention deficit hyperactivity disorderHP:0007018
  • Autistic behaviorHP:0000729
  • Bulbous noseHP:0000414
  • Clinodactyly of the 5th fingerHP:0004209
  • DepressionHP:0000716
  • DysphoniaHP:0001618
  • HypothyroidismHP:0000821
  • Long faceHP:0000276
  • NystagmusHP:0000639
  • Oromandibular dystoniaHP:0012048
  • Precocious pubertyHP:0000826

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

  • StrabismusHP:0000486

Excluded (0%)(1)

  • Feeding difficultiesHP:0011968