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Spinocerebellar ataxia type 18

ORPHA:98771 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(4)

  • AreflexiaHP:0001284
  • Gait ataxiaHP:0002066
  • Muscle weaknessHP:0001324
  • Somatic sensory dysfunctionHP:0003474

Frequent (79-30%)(8)

  • DysarthriaHP:0001260
  • DysmetriaHP:0001310
  • Hearing impairmentHP:0000365
  • Hyporeflexia of lower limbsHP:0002600
  • Lower limb hyperreflexiaHP:0002395
  • Muscle fibrillationHP:0010546
  • Pes cavusHP:0001761
  • Sensorimotor neuropathyHP:0007141

Occasional (29-5%)(6)

  • Cerebellar atrophyHP:0001272
  • Head tremorHP:0002346
  • NystagmusHP:0000639
  • Peripheral axonal neuropathyHP:0003477
  • Skeletal muscle atrophyHP:0003202
  • TitubationHP:0030187