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Alexander disease type II

ORPHA:363722 · Clinical subtype · Subtype of disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(2)

  • Abnormal medulla oblongata morphologyHP:0011441
  • Cervical spinal cord atrophyHP:0010873

Frequent (79-30%)(15)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormal periventricular white matter morphologyHP:0002518
  • AtaxiaHP:0001251
  • Babinski signHP:0003487
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • HyperreflexiaHP:0001347
  • Limb muscle weaknessHP:0003690
  • NystagmusHP:0000639
  • Palatal tremorHP:0010530
  • Periventricular cystsHP:0007109
  • Spastic paraparesisHP:0002313
  • SpasticityHP:0001257
  • Urinary bladder sphincter dysfunctionHP:0002839

Occasional (29-5%)(3)

  • RigidityHP:0002063
  • ScoliosisHP:0002650
  • Sleep disturbanceHP:0002360