← 返回搜尋

Spinocerebellar ataxia type 11

ORPHA:98767 · Disease · Disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(8)

  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Gait disturbanceHP:0001288
  • Gait imbalanceHP:0002141
  • Horizontal nystagmusHP:0000666
  • Jerky ocular pursuit movementsHP:0008003
  • Progressive cerebellar ataxiaHP:0002073
  • Vertical nystagmusHP:0010544

Very rare (<4-1%)(3)

  • Abnormal pyramidal signHP:0007256
  • DystoniaHP:0001332
  • Peripheral neuropathyHP:0009830