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17q11 microdeletion syndrome
ORPHA:97685 · Clinical subtype · Subtype of disorder
HPO 表現型（共 94 項）
Very frequent (99-80%)(4)
- FrecklingHP:0001480
- Multiple cafe-au-lait spotsHP:0007565
- Reduced social responsivenessHP:0012760
- Short attention spanHP:0000736
Frequent (79-30%)(21)
- Abnormal central motor functionHP:0011442
- Abnormal facial shapeHP:0001999
- Abnormal heart morphologyHP:0001627
- Abnormality of the faceHP:0000271
- Atypical behaviorHP:0000708
- Beaking of vertebral bodies T12-L3HP:0004562
- Brain imaging abnormalityHP:0410263
- HeadacheHP:0002315
- HypertensionHP:0000822
- Language impairmentHP:0002463
- Lisch nodulesHP:0009737
- Memory impairmentHP:0002354
- MigraineHP:0002076
- Nevus anemicusHP:0025105
- PapuleHP:0200034
- Plexiform neurofibromaHP:0009732
- Progressive visual lossHP:0000529
- Sleep disturbanceHP:0002360
- Specific learning disabilityHP:0001328
- Telangiectasia of the skinHP:0100585
- Thickened skinHP:0001072
Occasional (29-5%)(52)
- Abnormal choroid morphologyHP:0000610
- Abnormal internal carotid artery morphologyHP:3000062
- Abnormal lung morphologyHP:0002088
- Abnormality of the sphenoid sinusHP:0430022
- Abnormality of the vertebral columnHP:0000925
- Atypical neurofibromatosisHP:0007524
- Autistic behaviorHP:0000729
- BlindnessHP:0000618
- Brain neoplasmHP:0030692
- Brainstem gliomaHP:0010796
- Broad foreheadHP:0000337
- Cerebellar gliomaHP:0010795
- Cerebral artery stenosisHP:0012492
- Coarctation of aortaHP:0001680
- Deeply set eyeHP:0000490
- Delayed pubertyHP:0000823
- Dilatation of the cerebral arteryHP:0004944
- Elevated circulating parathyroid hormone levelHP:0003165
- Focal-onset seizureHP:0007359
- GlaucomaHP:0000501
- GliomaHP:0009733
- Global developmental delayHP:0001263
- Hypermelanotic maculeHP:0001034
- Hypertrophic cardiomyopathyHP:0001639
- Intellectual disabilityHP:0001249
- Intrauterine growth retardationHP:0001511
- KyphosisHP:0002808
- Large handsHP:0001176
- Long footHP:0001833
- Malignant peripheral nerve sheath tumorHP:0100697
- Multiple mucosal neuromasHP:0031023
- Narrowing of medullary canalHP:0032458
- Optic nerve gliomaHP:0009734
- OsteolysisHP:0002797
- OsteopeniaHP:0000938
- OsteoporosisHP:0000939
- PainHP:0012531
- PolyneuropathyHP:0001271
- ProptosisHP:0000520
- Pulmonary arterial hypertensionHP:0002092
- Pulmonic stenosisHP:0001642
- Recurrent subcortical infarctsHP:0007236
- Renal artery stenosisHP:0001920
- Renovascular hypertensionHP:0100817
- Retinal vascular proliferationHP:0007850
- SchwannomaHP:0100008
- ScoliosisHP:0002650
- SeizureHP:0001250
- Short statureHP:0004322
- StrabismusHP:0000486
- StrokeHP:0001297
- Thickened cortex of long bonesHP:0000935
Very rare (<4-1%)(17)
- Bowing of the legsHP:0002979
- Breast carcinomaHP:0003002
- Depressed nasal bridgeHP:0005280
- Diaphyseal dysplasiaHP:0100252
- Downslanted palpebral fissuresHP:0000494
- Dural ectasiaHP:0100775
- Gastrointestinal stroma tumorHP:0100723
- Glomus jugular tumorHP:0003001
- HypertelorismHP:0000316
- LeukemiaHP:0001909
- Low-set earsHP:0000369
- MyelodysplasiaHP:0002863
- PheochromocytomaHP:0002666
- Precocious pubertyHP:0000826
- RhabdomyosarcomaHP:0002859
- Webbed neckHP:0000465
- Wide intermamillary distanceHP:0006610