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Inherited Creutzfeldt-Jakob disease

ORPHA:282166 · Disease · Disorder

HPO 表現型（共 50 項）

Frequent (79-30%)(42)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormal pyramidal signHP:0007256
  • Abnormality of visionHP:0000504
  • Akinetic mutismHP:0012672
  • AnxietyHP:0000739
  • ApathyHP:0000741
  • AstrocytosisHP:0002446
  • Babinski signHP:0003487
  • BradykinesiaHP:0002067
  • Central nervous system degenerationHP:0007009
  • ClumsinessHP:0002312
  • ConfusionHP:0001289
  • DementiaHP:0000726
  • DepressionHP:0000716
  • Diffuse spongiform leukoencephalopathyHP:0006943
  • EEG with persistent abnormal rhythmic activityHP:0010846
  • Emotional labilityHP:0000712
  • Focal T2 hyperintense basal ganglia lesionHP:0007183
  • Gait ataxiaHP:0002066
  • Global brain atrophyHP:0002283
  • HypersomniaHP:0100786
  • InsomniaHP:0100785
  • IrritabilityHP:0000737
  • Loss of facial expressionHP:0005327
  • Muscle weaknessHP:0001324
  • MyoclonusHP:0001336
  • Neuronal loss in central nervous systemHP:0002529
  • NystagmusHP:0000639
  • Personality changesHP:0000751
  • Poor visual behavior for ageHP:0025152
  • Progressive cerebellar ataxiaHP:0002073
  • Progressive extrapyramidal muscular rigidityHP:0007158
  • Progressive forgetfulnessHP:0007017
  • SeizureHP:0001250
  • Senile plaquesHP:0100256
  • Short attention spanHP:0000736
  • Slurred speechHP:0001350
  • Spastic dysarthriaHP:0002464
  • Spastic hemiparesisHP:0011099
  • Stroke-like episodeHP:0002401
  • Supranuclear gaze palsyHP:0000605
  • TremorHP:0001337

Occasional (29-5%)(8)

  • Abnormal pupillary functionHP:0007686
  • Amyloidosis of peripheral nervesHP:0100292
  • ChoreaHP:0002072
  • DelusionHP:0000746
  • HallucinationsHP:0000738
  • Increased CSF protein concentrationHP:0002922
  • Trigeminal neuralgiaHP:0100661
  • Vestibular nystagmusHP:0010542