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Mucopolysaccharidosis type 2

ORPHA:580 · Disease · Disorder

HPO 表現型（共 74 項）

Very frequent (99-80%)(5)

  • Abnormal heart morphologyHP:0001627
  • Coarse facial featuresHP:0000280
  • Limitation of joint mobilityHP:0001376
  • MacrocephalyHP:0000256
  • Short statureHP:0004322

Frequent (79-30%)(36)

  • Abnormal heart valve morphologyHP:0001654
  • Atypical behaviorHP:0000708
  • Chronic diarrheaHP:0002028
  • Cognitive impairmentHP:0100543
  • Conductive hearing impairmentHP:0000405
  • Contractures of the large jointsHP:0005781
  • Decreased nerve conduction velocityHP:0000762
  • Dermatan sulfate excretion in urineHP:0008301
  • Developmental regressionHP:0002376
  • Dysostosis multiplexHP:0000943
  • Enlarged tonsilsHP:0030812
  • Flexion contracture of digitHP:0030044
  • Full cheeksHP:0000293
  • Gingival overgrowthHP:0000212
  • Growth delayHP:0001510
  • Heparan sulfate excretion in urineHP:0002159
  • HepatomegalyHP:0002240
  • Hoarse voiceHP:0001609
  • Inguinal herniaHP:0000023
  • Irregularity of vertebral bodiesHP:0004582
  • MacroglossiaHP:0000158
  • Mental deteriorationHP:0001268
  • Mongolian blue spotHP:0011369
  • Peripheral visual field lossHP:0007994
  • Progressive neurologic deteriorationHP:0002344
  • Recurrent ear infectionsHP:0410018
  • Recurrent upper respiratory tract infectionsHP:0002788
  • Retinal degenerationHP:0000546
  • RetinopathyHP:0000488
  • Sensorineural hearing impairmentHP:0000407
  • Sleep apneaHP:0010535
  • Sleep disturbanceHP:0002360
  • Sleep-wake cycle disturbanceHP:0006979
  • SplenomegalyHP:0001744
  • Thick vermilion borderHP:0012471
  • Umbilical herniaHP:0001537

Occasional (29-5%)(26)

  • Abnormal aortic morphologyHP:0001679
  • Abnormal epiphyseal ossificationHP:0010656
  • Abnormal full-field electroretinogramHP:0030466
  • Abnormal mitral valve morphologyHP:0001633
  • Abnormal nasal mucus secretionHP:0031416
  • Abnormal pulmonary valve morphologyHP:0001641
  • Abnormal retinal pigmentationHP:0007703
  • Abnormal tricuspid valve morphologyHP:0001702
  • CardiomyopathyHP:0001638
  • Communicating hydrocephalusHP:0001334
  • Constrictive median neuropathyHP:0012185
  • Corneal opacityHP:0007957
  • Global developmental delayHP:0001263
  • Hip dysplasiaHP:0001385
  • Hip osteoarthritisHP:0008843
  • HyperactivityHP:0000752
  • Muscle stiffnessHP:0003552
  • Optic atrophyHP:0000648
  • OtosclerosisHP:0000362
  • PapilledemaHP:0001085
  • Prominent supraorbital ridgesHP:0000336
  • Spinal cord compressionHP:0002176
  • Temporomandibular joint ankylosisHP:0012478
  • Upper airway obstructionHP:0002781
  • Wide nasal bridgeHP:0000431
  • Wide noseHP:0000445

Very rare (<4-1%)(7)

  • Abnormal temper tantrumsHP:0025160
  • Aggressive behaviorHP:0000718
  • ArrhythmiaHP:0011675
  • HypertensionHP:0000822
  • ImpulsivityHP:0100710
  • Large central visual field defectHP:0001129
  • SeizureHP:0001250