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CLN12 disease

ORPHA:314632 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(1)

  • RigidityHP:0002063

Frequent (79-30%)(10)

  • Babinski signHP:0003487
  • BradykinesiaHP:0002067
  • Cognitive impairmentHP:0100543
  • Diffuse cerebral atrophyHP:0002506
  • DystoniaHP:0001332
  • MyoclonusHP:0001336
  • Parkinsonism with favorable response to dopaminergic medicationHP:0002548
  • Postural instabilityHP:0002172
  • TremorHP:0001337
  • Upgaze palsyHP:0025331

Occasional (29-5%)(5)

  • Abnormal caudate nucleus morphologyHP:0002339
  • DysarthriaHP:0001260
  • FatigueHP:0012378
  • Gait disturbanceHP:0001288
  • Muscle weaknessHP:0001324

Very rare (<4-1%)(2)

  • DepressionHP:0000716
  • Postural tremorHP:0002174