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Lafora disease

ORPHA:501 · Disease · Disorder

HPO 表現型（共 35 項）

Obligate (100%)(1)

  • Lafora bodiesHP:0100318

Very frequent (99-80%)(1)

  • SeizureHP:0001250

Frequent (79-30%)(19)

  • AtaxiaHP:0001251
  • ConfusionHP:0001289
  • DementiaHP:0000726
  • DepressionHP:0000716
  • DysarthriaHP:0001260
  • Emotional labilityHP:0000712
  • Erratic myoclonusHP:0025357
  • Gait disturbanceHP:0001288
  • Generalized myoclonic seizureHP:0002123
  • Giant somatosensory evoked potentialsHP:0001312
  • HeadacheHP:0002315
  • HypsarrhythmiaHP:0002521
  • Inability to walkHP:0002540
  • Mental deteriorationHP:0001268
  • Nasogastric tube feedingHP:0040288
  • Recurrent aspiration pneumoniaHP:0002100
  • SpasticityHP:0001257
  • Status epilepticusHP:0002133
  • Visual hallucinationHP:0002367

Occasional (29-5%)(14)

  • Atonic seizureHP:0010819
  • Atypical absence seizureHP:0007270
  • Bilateral tonic-clonic seizureHP:0002069
  • Bilateral tonic-clonic seizure with focal onsetHP:0007334
  • Brain atrophyHP:0012444
  • Focal impaired awareness seizureHP:0002384
  • Focal sensory seizure with visual featuresHP:0011165
  • Focal-onset seizureHP:0007359
  • Generalized non-motor (absence) seizureHP:0002121
  • Hepatic failureHP:0001399
  • MyoclonusHP:0001336
  • Severe photosensitivityHP:0007537
  • Sleep disturbanceHP:0002360
  • Vegetative stateHP:0031358