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Scheie syndrome

ORPHA:93474 · Clinical subtype · Subtype of disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(8)

  • Abnormal nerve conduction velocityHP:0040129
  • Abnormality of the skeletal systemHP:0000924
  • Aortic regurgitationHP:0001659
  • Cerebral palsyHP:0100021
  • Corneal opacityHP:0007957
  • GlaucomaHP:0000501
  • Limitation of joint mobilityHP:0001376
  • MucopolysacchariduriaHP:0008155

Frequent (79-30%)(5)

  • Coarse facial featuresHP:0000280
  • Everted lower lip vermilionHP:0000232
  • HepatomegalyHP:0002240
  • SplenomegalyHP:0001744
  • Thick vermilion borderHP:0012471

Occasional (29-5%)(5)

  • Joint stiffnessHP:0001387
  • RhinitisHP:0012384
  • Sensorineural hearing impairmentHP:0000407
  • Spastic paraparesisHP:0002313
  • Wide mouthHP:0000154