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Spinocerebellar ataxia type 8

ORPHA:98760 · Disease · Disorder

HPO 表現型（共 23 項）

Frequent (79-30%)(15)

  • AtaxiaHP:0001251
  • BradykinesiaHP:0002067
  • Cerebellar atrophyHP:0001272
  • Cerebellar vermis atrophyHP:0006855
  • DystoniaHP:0001332
  • Gait ataxiaHP:0002066
  • HyperreflexiaHP:0001347
  • ImpotenceHP:0000802
  • Limb ataxiaHP:0002070
  • NystagmusHP:0000639
  • Postural instabilityHP:0002172
  • RigidityHP:0002063
  • Spastic dysarthriaHP:0002464
  • SpasticityHP:0001257
  • Unsteady gaitHP:0002317

Occasional (29-5%)(8)

  • AspirationHP:0002835
  • DepressionHP:0000716
  • DysphagiaHP:0002015
  • Facial grimacingHP:0000273
  • Hypoplasia of the ponsHP:0012110
  • Impaired smooth pursuitHP:0007772
  • Impaired vibratory sensationHP:0002495
  • Urinary incontinenceHP:0000020