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Alexander disease type I

ORPHA:363717 · Clinical subtype · Subtype of disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(2)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Focal T2 hyperintense basal ganglia lesionHP:0007183

Frequent (79-30%)(8)

  • Abnormal pyramidal signHP:0007256
  • Abnormal thalamic MRI signal intensityHP:0012696
  • Cerebellar atrophyHP:0001272
  • Failure to thriveHP:0001508
  • Progressive macrocephalyHP:0004481
  • Rosenthal fibersHP:0100320
  • ScoliosisHP:0002650
  • SeizureHP:0001250

Occasional (29-5%)(8)

  • AtaxiaHP:0001251
  • CachexiaHP:0004326
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Global developmental delayHP:0001263
  • HydrocephalusHP:0000238
  • HyperreflexiaHP:0001347
  • SpasticityHP:0001257

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

  • Generalized hypotoniaHP:0001290
  • HypotoniaHP:0001252
  • Palatal tremorHP:0010530
  • VomitingHP:0002013