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Mucopolysaccharidosis type 1

ORPHA:579 · Disease · Disorder

HPO 表現型（共 57 項）

Very frequent (99-80%)(17)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the voiceHP:0001608
  • Chronic otitis mediaHP:0000389
  • Coarse facial featuresHP:0000280
  • Corneal opacityHP:0007957
  • Generalized hirsutismHP:0002230
  • HerniaHP:0100790
  • Inguinal herniaHP:0000023
  • Joint stiffnessHP:0001387
  • MucopolysacchariduriaHP:0008155
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • SinusitisHP:0000246
  • SplenomegalyHP:0001744
  • Split handHP:0001171

Frequent (79-30%)(28)

  • Abnormal hip bone morphologyHP:0003272
  • Abnormal nasal morphologyHP:0005105
  • Abnormality of the faceHP:0000271
  • Abnormality of the tonsilsHP:0100765
  • ApneaHP:0002104
  • ArthralgiaHP:0002829
  • CoughHP:0012735
  • Depressed nasal bridgeHP:0005280
  • Developmental regressionHP:0002376
  • DolichocephalyHP:0000268
  • Enlarged thoraxHP:0100625
  • Everted lower lip vermilionHP:0000232
  • Full cheeksHP:0000293
  • Gingival overgrowthHP:0000212
  • GlaucomaHP:0000501
  • Hearing impairmentHP:0000365
  • Intellectual disabilityHP:0001249
  • Low anterior hairlineHP:0000294
  • MacrocephalyHP:0000256
  • MalabsorptionHP:0002024
  • MicrodontiaHP:0000691
  • ParesthesiaHP:0003401
  • Recurrent respiratory infectionsHP:0002205
  • RetinopathyHP:0000488
  • Sensorineural hearing impairmentHP:0000407
  • Thick lower lip vermilionHP:0000179
  • Thick nasal alaeHP:0009928
  • Widely spaced teethHP:0000687

Occasional (29-5%)(12)

  • Abnormal aortic valve morphologyHP:0001646
  • Abnormal heart valve morphologyHP:0001654
  • Abnormal tendon morphologyHP:0100261
  • Avascular necrosisHP:0010885
  • Congestive heart failureHP:0001635
  • Hemiplegia/hemiparesisHP:0004374
  • HydrocephalusHP:0000238
  • Hypertrophic cardiomyopathyHP:0001639
  • Joint dislocationHP:0001373
  • Optic atrophyHP:0000648
  • Spinal canal stenosisHP:0003416
  • Visual impairmentHP:0000505