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Hereditary late-onset Parkinson disease

ORPHA:411602 · Disease · Disorder

HPO 表現型（共 34 項）

Obligate (100%)(1)

  • ParkinsonismHP:0001300

Frequent (79-30%)(9)

  • AkinesiaHP:0002304
  • Chronic constipationHP:0012450
  • DiplopiaHP:0000651
  • DysphagiaHP:0002015
  • Frequent fallsHP:0002359
  • HyposmiaHP:0004409
  • Parkinsonism with favorable response to dopaminergic medicationHP:0002548
  • Resting tremorHP:0002322
  • Spastic/hyperactive bladderHP:0005340

Occasional (29-5%)(22)

  • AgitationHP:0000713
  • ApathyHP:0000741
  • BradykinesiaHP:0002067
  • Cerebral cortical atrophyHP:0002120
  • DepressionHP:0000716
  • DyskinesiaHP:0100660
  • DystoniaHP:0001332
  • GliosisHP:0002171
  • Hypomimic faceHP:0000338
  • ImpulsivityHP:0100710
  • Lewy bodiesHP:0100315
  • Low frustration toleranceHP:0000744
  • Mental deteriorationHP:0001268
  • Monotonic speechHP:0031435
  • Muscle spasmHP:0003394
  • Orthostatic hypotension due to autonomic dysfunctionHP:0004926
  • Postural instabilityHP:0002172
  • RigidityHP:0002063
  • Shuffling gaitHP:0002362
  • Sleep disturbanceHP:0002360
  • Visual hallucinationHP:0002367
  • Weight lossHP:0001824

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

  • DementiaHP:0000726
  • SchizophreniaHP:0100753