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PLA2G6-related neurodegeneration, adult-onset

ORPHA:199351 · Disease · Disorder

HPO 表現型（共 32 項）

Frequent (79-30%)(22)

  • Abnormal circulating creatine kinase activityHP:0040081
  • BradykinesiaHP:0002067
  • ClumsinessHP:0002312
  • DysarthriaHP:0001260
  • DyslexiaHP:0010522
  • DysphagiaHP:0002015
  • Eyelid apraxiaHP:0000658
  • Focal dystoniaHP:0004373
  • Frontotemporal cerebral atrophyHP:0006892
  • Frontotemporal dementiaHP:0002145
  • Generalized cerebral atrophy/hypoplasiaHP:0007058
  • HyperreflexiaHP:0001347
  • Hypometric saccadesHP:0000571
  • Hypomimic faceHP:0000338
  • Neurofibrillary tanglesHP:0002185
  • Parkinsonism with favorable response to dopaminergic medicationHP:0002548
  • Postural instabilityHP:0002172
  • Progressive extrapyramidal movement disorderHP:0007153
  • RigidityHP:0002063
  • SpasticityHP:0001257
  • Stiff hipHP:0025262
  • TremorHP:0001337

Occasional (29-5%)(10)

  • DelusionHP:0000746
  • DepressionHP:0000716
  • DystoniaHP:0001332
  • Global developmental delayHP:0001263
  • Iron accumulation in brainHP:0012675
  • MyoclonusHP:0001336
  • ParanoiaHP:0011999
  • Personality changesHP:0000751
  • SeizureHP:0001250
  • Supranuclear gaze palsyHP:0000605