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Atypical juvenile parkinsonism

ORPHA:391411 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(8)

  • BradykinesiaHP:0002067
  • DystoniaHP:0001332
  • Hypomimic faceHP:0000338
  • Inability to walkHP:0002540
  • Postural instabilityHP:0002172
  • Resting tremorHP:0002322
  • RigidityHP:0002063
  • Slowed slurred speechHP:0007164

Frequent (79-30%)(16)

  • Abnormal nervous system physiologyHP:0012638
  • Abnormal pyramidal signHP:0007256
  • Abnormality of movementHP:0100022
  • AkinesiaHP:0002304
  • Brain atrophyHP:0012444
  • FatigueHP:0012378
  • Gait ataxiaHP:0002066
  • HyporeflexiaHP:0001265
  • Intellectual disabilityHP:0001249
  • Involuntary movementsHP:0004305
  • Leg muscle stiffnessHP:0008969
  • Pes cavusHP:0001761
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short stepped shuffling gaitHP:0007311
  • Weak voiceHP:0001621

Occasional (29-5%)(3)

  • AnarthriaHP:0002425
  • MyoclonusHP:0001336
  • Shuffling gaitHP:0002362