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Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

ORPHA:284271 · Disease · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(9)

  • Abnormality of ocular smooth pursuitHP:0000617
  • AtaxiaHP:0001251
  • Cerebellar atrophyHP:0001272
  • DysarthriaHP:0001260
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Limb ataxiaHP:0002070
  • Truncal ataxiaHP:0002078

Frequent (79-30%)(4)

  • DysphagiaHP:0002015
  • Gaze-evoked horizontal nystagmusHP:0007979
  • NystagmusHP:0000639
  • Unsteady gaitHP:0002317