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Mucopolysaccharidosis type 4

ORPHA:582 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(17)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal rib morphologyHP:0000772
  • Abnormality of the dentitionHP:0000164
  • Bowing of the long bonesHP:0006487
  • Corneal opacityHP:0007957
  • Delayed skeletal maturationHP:0002750
  • Gait disturbanceHP:0001288
  • Genu valgumHP:0002857
  • Hearing impairmentHP:0000365
  • Joint hypermobilityHP:0001382
  • MucopolysacchariduriaHP:0008155
  • Pectus carinatumHP:0000768
  • Reduced bone mineral densityHP:0004349
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Short thoraxHP:0010306

Frequent (79-30%)(15)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal heart valve morphologyHP:0001654
  • Anteverted naresHP:0000463
  • Carious teethHP:0000670
  • Coarse facial featuresHP:0000280
  • Coxa valgaHP:0002673
  • Grayish enamelHP:0000683
  • HerniaHP:0100790
  • HyperlordosisHP:0003307
  • Joint dislocationHP:0001373
  • KyphosisHP:0002808
  • PlatyspondylyHP:0000926
  • ScoliosisHP:0002650
  • Spinal canal stenosisHP:0003416
  • Wide mouthHP:0000154

Occasional (29-5%)(2)

  • Cognitive impairmentHP:0100543
  • MacrocephalyHP:0000256