22q11.2 deletion syndrome

ORPHA:567 · Malformation syndrome · Disorder

HPO 表現型（共 131 項）

Very frequent (99-80%)(24)

Abnormal aortic arch morphologyHP:0012303
Abnormal cardiovascular system morphologyHP:0030680
Abnormal facial shapeHP:0001999
Abnormal pulmonary valve morphologyHP:0001641
Abnormality of the pharynxHP:0000600
AphasiaHP:0002381
Atrial septal defectHP:0001631
Bulbous noseHP:0000414
Cleft palateHP:0000175
Conductive hearing impairmentHP:0000405
EpicanthusHP:0000286
Hypernasal speechHP:0001611
Hypoplasia of the thymusHP:0000778
HypotoniaHP:0001252
ImmunodeficiencyHP:0002721
Low-set earsHP:0000369
PlatybasiaHP:0002691
Prominent nasal bridgeHP:0000426
TelecanthusHP:0000506
Tetralogy of FallotHP:0001636
Truncus arteriosusHP:0001660
Upslanted palpebral fissureHP:0000582
Ventricular septal defectHP:0001629
Wide nasal bridgeHP:0000431

Frequent (79-30%)(35)

Abnormal eyelid morphologyHP:0000492
Abnormal skull morphologyHP:0000929
Abnormal T cell physiologyHP:0011840
Abnormality of the dentitionHP:0000164
Abnormality of the tonsilsHP:0100765
AcneHP:0001061
Anorectal anomalyHP:0012732
AnxietyHP:0000739
ArachnodactylyHP:0001166
Attention deficit hyperactivity disorderHP:0007018
Carious teethHP:0000670
Chronic otitis mediaHP:0000389
ConstipationHP:0002019
Corneal neovascularizationHP:0011496
Global developmental delayHP:0001263
Hearing impairmentHP:0000365
HypocalcemiaHP:0002901
HypoparathyroidismHP:0000829
Long faceHP:0000276
Long philtrumHP:0000343
Malar flatteningHP:0000272
MeningoceleHP:0002435
Mild intellectual disabilityHP:0001256
MyalgiaHP:0003326
Overfolded helixHP:0000396
Posterior embryotoxonHP:0000627
PtosisHP:0000508
Renal hypoplasiaHP:0000089
ScoliosisHP:0002650
Seborrheic dermatitisHP:0001051
Short neckHP:0000470
Short statureHP:0004322
Small earlobeHP:0000385
Specific learning disabilityHP:0001328
TetanyHP:0001281

Occasional (29-5%)(72)

Abnormal aortic valve morphologyHP:0001646
Abnormal dental enamel morphologyHP:0000682
Abnormal lung lobationHP:0002101
Abnormal thorax morphologyHP:0000765
Abnormality of the uterusHP:0000130
Abnormality of thrombocytesHP:0001872
Aganglionic megacolonHP:0002251
Anal atresiaHP:0002023
ArrhinencephalyHP:0002139
ArthritisHP:0001369
AsthmaHP:0002099
AtelectasisHP:0100750
Atypical behaviorHP:0000708
AutismHP:0000717
AutoimmunityHP:0002960
Bipolar affective disorderHP:0007302
Bowel incontinenceHP:0002607
CataractHP:0000518
Choanal atresiaHP:0000453
CholelithiasisHP:0001081
Chronic pulmonary obstructionHP:0006510
CryptorchidismHP:0000028
DepressionHP:0000716
Downslanted palpebral fissuresHP:0000494
Failure to thriveHP:0001508
Feeding difficulties in infancyHP:0008872
Foot polydactylyHP:0001829
Gastroesophageal refluxHP:0002020
Gastrointestinal hemorrhageHP:0002239
GlaucomaHP:0000501
Hand polydactylyHP:0001161
HydrocephalusHP:0000238
HypertelorismHP:0000316
Hypertensive crisisHP:0100735
HyperthyroidismHP:0000836
Hypopigmented skin patchesHP:0001053
HypospadiasHP:0000047
HypothyroidismHP:0000821
Inguinal herniaHP:0000023
Intellectual disabilityHP:0001249
Intestinal malrotationHP:0002566
Intrauterine growth retardationHP:0001511
Joint hypermobilityHP:0001382
LaryngomalaciaHP:0001601
MicrocephalyHP:0000252
MicrognathiaHP:0000347
MicrophthalmiaHP:0000568
Multiple renal cystsHP:0005562
Multiple suture craniosynostosisHP:0011324
Narrow mouthHP:0000160
ObesityHP:0001513
Optic atrophyHP:0000648
ParkinsonismHP:0001300
Patellar dislocationHP:0002999
Patent ductus arteriosusHP:0001643
Polycystic kidney dysplasiaHP:0000113
PolyhydramniosHP:0001561
PurpuraHP:0000979
Retinal arteriolar tortuosityHP:0001136
SchizophreniaHP:0100753
SeizureHP:0001250
Short philtrumHP:0000322
Spina bifidaHP:0002414
SplenomegalyHP:0001744
StrabismusHP:0000486
Talipes equinovarusHP:0001762
ThrombocytopeniaHP:0001873
Tricuspid atresiaHP:0011662
TurricephalyHP:0000262
Umbilical herniaHP:0001537
Varicose veinsHP:0002619
Vesicoureteral refluxHP:0000076