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Hurler syndrome

ORPHA:93473 · Clinical subtype · Subtype of disorder

HPO 表現型（共 60 項）

Very frequent (99-80%)(26)

  • Abnormal heart valve morphologyHP:0001654
  • Abnormal vertebral morphologyHP:0003468
  • Abnormality of the skeletal systemHP:0000924
  • Abnormality of the tonsilsHP:0100765
  • Anteverted naresHP:0000463
  • CardiomyopathyHP:0001638
  • Cerebral palsyHP:0100021
  • Coarse facial featuresHP:0000280
  • Depressed nasal bridgeHP:0005280
  • Frontal bossingHP:0002007
  • Full cheeksHP:0000293
  • Generalized hirsutismHP:0002230
  • Global developmental delayHP:0001263
  • HepatomegalyHP:0002240
  • HerniaHP:0100790
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Large faceHP:0100729
  • Limitation of joint mobilityHP:0001376
  • MucopolysacchariduriaHP:0008155
  • RhinitisHP:0012384
  • Short neckHP:0000470
  • Skeletal dysplasiaHP:0002652
  • SplenomegalyHP:0001744
  • Thick eyebrowHP:0000574
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(27)

  • Abnormal clavicle morphologyHP:0000889
  • Abnormal diaphysis morphologyHP:0000940
  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal rib morphologyHP:0000772
  • Abnormality of the elbowHP:0009811
  • Camptodactyly of fingerHP:0100490
  • Chronic diarrheaHP:0002028
  • Corneal opacityHP:0007957
  • Death in infancyHP:0001522
  • DepressionHP:0000716
  • DolichocephalyHP:0000268
  • Everted lower lip vermilionHP:0000232
  • Feeding difficultiesHP:0011968
  • GlaucomaHP:0000501
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • HydrocephalusHP:0000238
  • HypertensionHP:0000822
  • MacroglossiaHP:0000158
  • Mongolian blue spotHP:0011369
  • Narrow pelvis boneHP:0003275
  • Recurrent respiratory infectionsHP:0002205
  • RetinopathyHP:0000488
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360
  • Thick vermilion borderHP:0012471

Occasional (29-5%)(7)

  • Abnormal nerve conduction velocityHP:0040129
  • Abnormal pyramidal signHP:0007256
  • Abnormal skin pigmentationHP:0001000
  • Angina pectorisHP:0001681
  • Endocardial fibroelastosisHP:0001706
  • Spastic paraparesisHP:0002313
  • Spinal canal stenosisHP:0003416