← 返回搜尋

Hurler-Scheie syndrome

ORPHA:93476 · Clinical subtype · Subtype of disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(12)

  • Abnormal heart valve morphologyHP:0001654
  • Abnormal vertebral morphologyHP:0003468
  • Abnormality of the tonsilsHP:0100765
  • Coarse facial featuresHP:0000280
  • Corneal opacityHP:0007957
  • HepatomegalyHP:0002240
  • HerniaHP:0100790
  • Limitation of joint mobilityHP:0001376
  • RhinitisHP:0012384
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652
  • SplenomegalyHP:0001744

Frequent (79-30%)(4)

  • Abnormal nerve conduction velocityHP:0040129
  • Abnormal pyramidal signHP:0007256
  • Sensorineural hearing impairmentHP:0000407
  • Spinal canal stenosisHP:0003416

Occasional (29-5%)(2)

  • CardiomyopathyHP:0001638
  • Generalized hirsutismHP:0002230