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8q24.3 microdeletion syndrome
ORPHA:508488 · Malformation syndrome · Disorder
HPO 表現型（共 101 項）
Very frequent (99-80%)(3)
- Global developmental delayHP:0001263
- Moderate intellectual disabilityHP:0002342
- Short statureHP:0004322
Frequent (79-30%)(25)
- Abnormal heart morphologyHP:0001627
- Abnormality of the handHP:0001155
- Anteverted naresHP:0000463
- Asymmetry of the earsHP:0010722
- Autistic behaviorHP:0000729
- Broad nasal tipHP:0000455
- Clinodactyly of the 5th fingerHP:0004209
- EpicanthusHP:0000286
- Expressive language delayHP:0002474
- Feeding difficulties in infancyHP:0008872
- Finger clinodactylyHP:0040019
- Full cheeksHP:0000293
- Intrauterine growth retardationHP:0001511
- Joint hypermobilityHP:0001382
- Long philtrumHP:0000343
- Nasogastric tube feeding in infancyHP:0011470
- Pes valgusHP:0008081
- Posteriorly rotated earsHP:0000358
- Reduced visual acuityHP:0007663
- Short middle phalanx of the 5th fingerHP:0004220
- Short neckHP:0000470
- Smooth philtrumHP:0000319
- Square faceHP:0000321
- Thin upper lip vermilionHP:0000219
- Wide nasal bridgeHP:0000431
Occasional (29-5%)(73)
- Abnormal cricoid cartilage morphologyHP:3000038
- Abnormal lung lobationHP:0002101
- Abnormality of the kidneyHP:0000077
- Atrioventricular canal defectHP:0006695
- Bilateral microphthalmosHP:0007633
- Bilateral renal hypoplasiaHP:0012584
- Branchial cystHP:0009796
- Capillary hemangiomaHP:0005306
- Cervical ribsHP:0000891
- Cleft maxillary alveolar ridgeHP:0010289
- Coarctation of aortaHP:0001680
- Complete atrioventricular canal defectHP:0001674
- Congenital hip dislocationHP:0001374
- Deeply set eyeHP:0000490
- DysphagiaHP:0002015
- Dysplastic aortic valveHP:0005176
- EcholaliaHP:0010529
- Ectopic posterior pituitaryHP:0011755
- Exocrine pancreatic insufficiencyHP:0001738
- ExotropiaHP:0000577
- Gastroesophageal refluxHP:0002020
- Gastrointestinal hemorrhageHP:0002239
- Generalized hypotoniaHP:0001290
- Global brain atrophyHP:0002283
- Hemifacial hypoplasiaHP:0011332
- Highly arched eyebrowHP:0002553
- Hip dysplasiaHP:0001385
- HyperactivityHP:0000752
- Hypoplasia of the corpus callosumHP:0002079
- Hypoplastic aortic archHP:0012304
- Infancy onset short-trunk short statureHP:0011406
- Inguinal herniaHP:0000023
- Long eyelashesHP:0000527
- Long fingersHP:0100807
- Long toeHP:0010511
- Low frustration toleranceHP:0000744
- MesiodensHP:0011067
- MicromeliaHP:0002983
- MicroretrognathiaHP:0000308
- Naevus flammeus of the eyelidHP:0010733
- Narrow chestHP:0000774
- Narrow foreheadHP:0000341
- OligohydramniosHP:0001562
- Optic nerve hypoplasiaHP:0000609
- Oval faceHP:0000300
- Patent ductus arteriosusHP:0001643
- Pectus excavatumHP:0000767
- Pelvic kidneyHP:0000125
- Pes planusHP:0001763
- Prominent foreheadHP:0011220
- Reduced eye contactHP:0000817
- Respiratory distressHP:0002098
- Retinal colobomaHP:0000480
- Rocker bottom footHP:0001838
- Secondary microcephalyHP:0005484
- SeizureHP:0001250
- Short 5th fingerHP:0009237
- Short femurHP:0003097
- Short halluxHP:0010109
- Single transverse palmar creaseHP:0000954
- Skin tagsHP:0010609
- Small for gestational ageHP:0001518
- Spina bifida occultaHP:0003298
- StrabismusHP:0000486
- TalipesHP:0001883
- Thick eyebrowHP:0000574
- Thoracic scoliosisHP:0002943
- TicsHP:0100033
- Truncus arteriosusHP:0001660
- Unilateral renal agenesisHP:0000122
- Upslanted palpebral fissureHP:0000582
- Ventricular septal defectHP:0001629
- Vesicoureteral refluxHP:0000076