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Spinocerebellar ataxia with axonal neuropathy type 2

ORPHA:64753 · Disease · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(4)

  • AreflexiaHP:0001284
  • AtaxiaHP:0001251
  • Cerebellar vermis atrophyHP:0006855
  • Sensorimotor neuropathyHP:0007141

Frequent (79-30%)(6)

  • Elevated circulating alpha-fetoprotein concentrationHP:0006254
  • Gait imbalanceHP:0002141
  • Gaze-evoked nystagmusHP:0000640
  • Oculomotor apraxiaHP:0000657
  • Saccadic smooth pursuit interruptionsHP:0001152
  • Somatic sensory dysfunctionHP:0003474

Occasional (29-5%)(12)

  • Abnormal pyramidal signHP:0007256
  • Babinski signHP:0003487
  • ChoreoathetosisHP:0001266
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Elevated circulating creatine kinase activityHP:0003236
  • Head tremorHP:0002346
  • HypercholesterolemiaHP:0003124
  • HypoalbuminemiaHP:0003073
  • Postural tremorHP:0002174
  • StrabismusHP:0000486
  • Urinary bladder sphincter dysfunctionHP:0002839