Williams syndrome

ORPHA:904 · Malformation syndrome · Disorder

HPO 表現型（共 186 項）

Very frequent (99-80%)(49)

Abdominal painHP:0002027
Abnormal nervous system morphologyHP:0012639
Abnormal pelvic girdle bone morphologyHP:0002644
Abnormal social behaviorHP:0012433
Abnormal speech patternHP:0002167
Abnormality of extrapyramidal motor functionHP:0002071
Abnormality of the cardiovascular systemHP:0001626
Abnormality of the neckHP:0000464
Abnormality of the voiceHP:0001608
AnxietyHP:0000739
AtaxiaHP:0001251
BlepharophimosisHP:0000581
Broad foreheadHP:0000337
Coarse facial featuresHP:0000280
DepressionHP:0000716
DysgraphiaHP:0010526
DysmetriaHP:0001310
Elfin faciesHP:0004428
EpicanthusHP:0000286
Everted lower lip vermilionHP:0000232
Failure to thrive in infancyHP:0001531
Gait disturbanceHP:0001288
Gait imbalanceHP:0002141
High foreheadHP:0000348
High hypermetropiaHP:0008499
Hoarse voiceHP:0001609
HyperacusisHP:0010780
HypercalcemiaHP:0003072
HyperreflexiaHP:0001347
Intellectual disabilityHP:0001249
Involuntary movementsHP:0004305
Long philtrumHP:0000343
MacroglossiaHP:0000158
MacrotiaHP:0000400
MicrognathiaHP:0000347
Narrow faceHP:0000275
Open biteHP:0010807
OverfriendlinessHP:0100025
Periorbital edemaHP:0100539
PhonophobiaHP:0002183
Pointed chinHP:0000307
Posteriorly rotated earsHP:0000358
Protruding earHP:0000411
Short noseHP:0003196
Short statureHP:0004322
Thick lower lip vermilionHP:0000179
TremorHP:0001337
Wide mouthHP:0000154
Wide nasal bridgeHP:0000431

Frequent (79-30%)(53)

Abnormal cerebral vascular morphologyHP:0100659
Abnormal dental enamel morphologyHP:0000682
Abnormal dental morphologyHP:0006482
Abnormal fingernail morphologyHP:0001231
Abnormality of the bladderHP:0000014
Arterial stenosisHP:0100545
ArthralgiaHP:0002829
Attention deficit hyperactivity disorderHP:0007018
AutismHP:0000717
Cerebral ischemiaHP:0002637
Chronic otitis mediaHP:0000389
Clinodactyly of the 5th fingerHP:0004209
Colonic diverticulaHP:0002253
Compulsive behaviorsHP:0000722
ConstipationHP:0002019
Dental malocclusionHP:0000689
Down-sloping shouldersHP:0200021
Elevated circulating creatine kinase activityHP:0003236
Genu valgumHP:0002857
Hallux valgusHP:0001822
HypercalciuriaHP:0002150
HyperlordosisHP:0003307
HypertensionHP:0000822
HypodontiaHP:0000668
Hypoplasia of the zygomatic boneHP:0010669
Hypoplastic toenailsHP:0001800
HypotoniaHP:0001252
Inguinal herniaHP:0000023
InsomniaHP:0100785
Joint stiffnessHP:0001387
KyphosisHP:0002808
MicrocephalyHP:0000252
MicrodontiaHP:0000691
Mitral regurgitationHP:0001653
Mitral valve prolapseHP:0001634
Nausea and vomitingHP:0002017
Nystagmus-induced head noddingHP:0001361
ObesityHP:0001513
Pelvic kidneyHP:0000125
Peripheral pulmonary artery stenosisHP:0004969
Pes planusHP:0001763
ProteinuriaHP:0000093
Pulmonic stenosisHP:0001642
Redundant skinHP:0001582
Renal insufficiencyHP:0000083
Renovascular hypertensionHP:0100817
Sacral dimpleHP:0000960
Sensorineural hearing impairmentHP:0000407
SpasticityHP:0001257
StrabismusHP:0000486
StrokeHP:0001297
Supravalvular aortic stenosisHP:0004381
Visual impairmentHP:0000505

Occasional (29-5%)(84)

Abnormal cardiac septum morphologyHP:0001671
Abnormal carotid artery morphologyHP:0005344
Abnormal circulating lipid concentrationHP:0003119
Abnormal dermatoglyphicsHP:0007477
Abnormal diencephalon morphologyHP:0010662
Abnormal endocardium morphologyHP:0004306
Abnormal gastric mucosa morphologyHP:0004295
Abnormal tubulointerstitial morphologyHP:0001969
Abnormal vertebral body morphologyHP:0003312
Abnormality of the ankleHP:0003028
Adducted thumbHP:0001181
Aortic arch aneurysmHP:0005113
Aplasia/Hypoplasia of the irisHP:0008053
Atrial septal defectHP:0001631
Atrophy/Degeneration involving the corticospinal tractsHP:0007372
Bicuspid aortic valveHP:0001647
Bladder diverticulumHP:0000015
Blue iridesHP:0000635
CardiomegalyHP:0001640
Carious teethHP:0000670
CataractHP:0000518
Cerebral cortical atrophyHP:0002120
Chiari malformationHP:0002308
CholelithiasisHP:0001081
Congestive heart failureHP:0001635
Corneal opacityHP:0007957
CryptorchidismHP:0000028
Death in early adulthoodHP:0100613
Delayed skeletal maturationHP:0002750
Developmental regressionHP:0002376
DysarthriaHP:0001260
DysphoniaHP:0001618
Flat corneaHP:0007720
Functional abnormality of male internal genitaliaHP:0000025
Gastroesophageal refluxHP:0002020
Gingival overgrowthHP:0000212
GlaucomaHP:0000501
Hypertrophic cardiomyopathyHP:0001639
Hypogonadotropic hypogonadismHP:0000044
Hypoplasia of penisHP:0008736
HypothyroidismHP:0000821
Increased bone mineral densityHP:0011001
Increased nuchal translucencyHP:0010880
Joint hypermobilityHP:0001382
Kidney stoneHP:0000787
Lacrimation abnormalityHP:0000632
MalabsorptionHP:0002024
MegalocorneaHP:0000485
Multiple renal cystsHP:0005562
Myocardial infarctionHP:0001658
MyopathyHP:0003198
MyopiaHP:0000545
NephrocalcinosisHP:0000121
Nevus flammeusHP:0001052
OsteopeniaHP:0000938
OsteoporosisHP:0000939
Overriding aortaHP:0002623
Patellar dislocationHP:0002999
Patent ductus arteriosusHP:0001643
Pectus excavatumHP:0000767
Peptic ulcerHP:0004398
Polycystic ovariesHP:0000147
Posterior embryotoxonHP:0000627
Precocious pubertyHP:0000826
Prematurely aged appearanceHP:0007495
Radioulnar synostosisHP:0002974
Rectal prolapseHP:0002035
Recurrent respiratory infectionsHP:0002205
Recurrent urinary tract infectionsHP:0000010
Renal duplicationHP:0000075
Renal hypoplasiaHP:0000089
Retinal arteriolar tortuosityHP:0001136
ScoliosisHP:0002650
Spina bifida occultaHP:0003298
Sudden cardiac deathHP:0001645
Synostosis of jointsHP:0100240
Tetralogy of FallotHP:0001636
Tracheoesophageal fistulaHP:0002575
Type II diabetes mellitusHP:0005978
Umbilical herniaHP:0001537
Urethral stenosisHP:0008661
Ventricular septal defectHP:0001629
Vertebral segmentation defectHP:0003422
Vesicoureteral refluxHP:0000076