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Gaucher disease type 2

ORPHA:77260 · Clinical subtype · Subtype of disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(9)

  • Abnormal pattern of respirationHP:0002793
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • EncephalopathyHP:0001298
  • HepatomegalyHP:0002240
  • OphthalmoplegiaHP:0000602
  • SpasticityHP:0001257
  • SplenomegalyHP:0001744
  • StrabismusHP:0000486

Frequent (79-30%)(19)

  • Abnormal pulmonary interstitial morphologyHP:0006530
  • AnemiaHP:0001903
  • Decreased beta-glucocerebrosidase levelHP:0003656
  • DyspneaHP:0002094
  • Flexion contractureHP:0001371
  • Generalized myoclonic seizureHP:0002123
  • HypotoniaHP:0001252
  • IrritabilityHP:0000737
  • LaryngospasmHP:0025425
  • OpisthotonusHP:0002179
  • Progressive psychomotor deteriorationHP:0007272
  • Recurrent respiratory infectionsHP:0002205
  • Respiratory distressHP:0002098
  • SeizureHP:0001250
  • StridorHP:0010307
  • Supranuclear gaze palsyHP:0000605
  • ThrombocytopeniaHP:0001873
  • TrismusHP:0000211
  • VomitingHP:0002013

Occasional (29-5%)(5)

  • Arthrogryposis multiplex congenitaHP:0002804
  • Cardiac arrestHP:0001695
  • Congenital nonbullous ichthyosiform erythrodermaHP:0007479
  • IchthyosisHP:0008064
  • Nonimmune hydrops fetalisHP:0001790