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Spinocerebellar ataxia type 13

ORPHA:98768 · Disease · Disorder

HPO 表現型（共 32 項）

Frequent (79-30%)(15)

  • Cerebellar atrophyHP:0001272
  • Difficulty runningHP:0009046
  • DysarthriaHP:0001260
  • Gait ataxiaHP:0002066
  • Gait disturbanceHP:0001288
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • HyperreflexiaHP:0001347
  • Impaired distal vibration sensationHP:0006886
  • Impaired visuospatial constructive cognitionHP:0010794
  • Limb ataxiaHP:0002070
  • Mild intellectual disabilityHP:0001256
  • Motor delayHP:0001270
  • NystagmusHP:0000639
  • TitubationHP:0030187

Occasional (29-5%)(12)

  • ClumsinessHP:0002312
  • DysphagiaHP:0002015
  • Hearing impairmentHP:0000365
  • Hyperactive deep tendon reflexesHP:0006801
  • Jerky ocular pursuit movementsHP:0008003
  • MyoclonusHP:0001336
  • Optic atrophyHP:0000648
  • Optic disc pallorHP:0000543
  • Postural instabilityHP:0002172
  • TorticollisHP:0000473
  • Urinary incontinenceHP:0000020
  • Urinary urgencyHP:0000012

Very rare (<4-1%)(5)

  • Abnormal facial shapeHP:0001999
  • BradykinesiaHP:0002067
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Upgaze palsyHP:0025331