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Schilder disease

ORPHA:59298 · Disease · Disorder

HPO 表現型（共 19 項）

Frequent (79-30%)(6)

  • CNS demyelinationHP:0007305
  • HeadacheHP:0002315
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • HyperreflexiaHP:0001347
  • Increased CSF protein concentrationHP:0002922
  • Progressive neurologic deteriorationHP:0002344

Occasional (29-5%)(13)

  • Ankle clonusHP:0011448
  • AtaxiaHP:0001251
  • CSF pleocytosisHP:0012229
  • DiplopiaHP:0000651
  • EncephalopathyHP:0001298
  • EsotropiaHP:0000565
  • Increased intracranial pressureHP:0002516
  • Muscle weaknessHP:0001324
  • NauseaHP:0002018
  • Postural instabilityHP:0002172
  • SeizureHP:0001250
  • VertigoHP:0002321
  • VomitingHP:0002013