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Mucopolysaccharidosis type 6

ORPHA:583 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(13)

  • Abnormal metaphysis morphologyHP:0000944
  • Chronic otitis mediaHP:0000389
  • Coarse facial featuresHP:0000280
  • Disproportionate short-trunk short statureHP:0003521
  • Epiphyseal dysplasiaHP:0002656
  • Failure to thriveHP:0001508
  • Joint stiffnessHP:0001387
  • MucopolysacchariduriaHP:0008155
  • Opacification of the corneal stromaHP:0007759
  • Recurrent upper respiratory tract infectionsHP:0002788
  • SinusitisHP:0000246
  • Thick lower lip vermilionHP:0000179
  • Thick nasal alaeHP:0009928

Frequent (79-30%)(8)

  • Broad ribsHP:0000885
  • Genu valgumHP:0002857
  • Hearing impairmentHP:0000365
  • HerniaHP:0100790
  • KyphosisHP:0002808
  • Ovoid vertebral bodiesHP:0003300
  • Short neckHP:0000470
  • SplenomegalyHP:0001744

Occasional (29-5%)(5)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal heart valve morphologyHP:0001654
  • Cognitive impairmentHP:0100543
  • MacroglossiaHP:0000158
  • Visual impairmentHP:0000505