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Mucopolysaccharidosis type 3
ORPHA:581 · Disease · Disorder
HPO 表現型（共 106 項）
Very frequent (99-80%)(12)
- Central nervous system degenerationHP:0007009
- Chronic otitis mediaHP:0000389
- Coarse hairHP:0002208
- Delayed speech and language developmentHP:0000750
- Generalized hirsutismHP:0002230
- Intellectual disability, progressiveHP:0006887
- MalabsorptionHP:0002024
- MucopolysacchariduriaHP:0008155
- Progressive neurologic deteriorationHP:0002344
- Severe intellectual disabilityHP:0010864
- Sleep disturbanceHP:0002360
- Urinary glycosaminoglycan excretionHP:0003541
Frequent (79-30%)(32)
- Abnormal clavicle morphologyHP:0000889
- Abnormal facial shapeHP:0001999
- Abnormal rib morphologyHP:0000772
- Abnormal skeletal morphologyHP:0011842
- Abnormal vertebral body morphologyHP:0003312
- AdenoiditisHP:0031458
- AtaxiaHP:0001251
- Atypical behaviorHP:0000708
- Brain imaging abnormalityHP:0410263
- CataractHP:0000518
- Coarse facial featuresHP:0000280
- Craniofacial hyperostosisHP:0004493
- Developmental regressionHP:0002376
- Gait disturbanceHP:0001288
- Genu valgumHP:0002857
- Hearing impairmentHP:0000365
- Heparan sulfate excretion in urineHP:0002159
- HepatomegalyHP:0002240
- HirsutismHP:0001007
- HyperactivityHP:0000752
- HypertoniaHP:0001276
- Intermittent diarrheaHP:0002254
- MyopiaHP:0000545
- Otitis mediaHP:0000388
- Recurrent sinopulmonary infectionsHP:0005425
- Recurrent tonsillitisHP:0011110
- Respiratory tract infectionHP:0011947
- Specific learning disabilityHP:0001328
- SplenomegalyHP:0001744
- SynophrysHP:0000664
- Thick hairHP:0100874
- Vocal cord paresisHP:0001604
Occasional (29-5%)(52)
- Abnormal aortic valve morphologyHP:0001646
- Abnormal mitral valve morphologyHP:0001633
- Abnormal myocardium morphologyHP:0001637
- Abnormal pyramidal signHP:0007256
- Abnormal temper tantrumsHP:0025160
- Abnormality of the dentitionHP:0000164
- Abnormality of the middle ear ossiclesHP:0004452
- Aggressive behaviorHP:0000718
- Aspiration pneumoniaHP:0011951
- Atrioventricular blockHP:0001678
- Avascular necrosis of the capital femoral epiphysisHP:0005743
- CardiomegalyHP:0001640
- Conductive hearing impairmentHP:0000405
- ConstipationHP:0002019
- Constrictive median neuropathyHP:0012185
- Decreased circulating vitamin D concentrationHP:0100512
- DementiaHP:0000726
- DolichocephalyHP:0000268
- DysarthriaHP:0001260
- Dysostosis multiplexHP:0000943
- DysphagiaHP:0002015
- Fatigable weakness of swallowing musclesHP:0030195
- Flexion contractureHP:0001371
- Hip dysplasiaHP:0001385
- Hip painHP:0030838
- HydrocephalusHP:0000238
- Hyperactive deep tendon reflexesHP:0006801
- Increased susceptibility to fracturesHP:0002659
- Inguinal herniaHP:0000023
- Intellectual disabilityHP:0001249
- Joint stiffnessHP:0001387
- Loss of ambulationHP:0002505
- MacrocephalyHP:0000256
- MacroglossiaHP:0000158
- Mixed hearing impairmentHP:0000410
- Motor delayHP:0001270
- Obstructive sleep apneaHP:0002870
- Pigmentary retinopathyHP:0000580
- Protuberant abdomenHP:0001538
- Reduced bone mineral densityHP:0004349
- Reduced left ventricular ejection fractionHP:0012664
- Rod-cone dystrophyHP:0000510
- ScoliosisHP:0002650
- SeizureHP:0001250
- Sensorineural hearing impairmentHP:0000407
- SpasticityHP:0001257
- Thick nasal alaeHP:0009928
- Thick vermilion borderHP:0012471
- Thickened helicesHP:0000391
- Umbilical herniaHP:0001537
- Upper airway obstructionHP:0002781
- VentriculomegalyHP:0002119
Very rare (<4-1%)(10)
- Amplification of sexual behaviorHP:5200321
- BlindnessHP:0000618
- Constriction of peripheral visual fieldHP:0001133
- Corneal opacityHP:0007957
- DisinhibitionHP:0000734
- HyperoralityHP:0000710
- NyctalopiaHP:0000662
- Opacification of the corneal stromaHP:0007759
- Optic atrophyHP:0000648
- Retinal degenerationHP:0000546