← 返回搜尋
Baraitser-Winter cerebrofrontofacial syndrome
ORPHA:2995 · Malformation syndrome · Disorder
HPO 表現型（共 61 項）
Very frequent (99-80%)(37)
- AphasiaHP:0002381
- Coarse facial featuresHP:0000280
- Depressed nasal tipHP:0000437
- Downslanted palpebral fissuresHP:0000494
- EcholaliaHP:0010529
- EpicanthusHP:0000286
- EuryblepharonHP:0012905
- Failure to thriveHP:0001508
- Feeding difficultiesHP:0011968
- Full cheeksHP:0000293
- Global developmental delayHP:0001263
- Growth delayHP:0001510
- Highly arched eyebrowHP:0002553
- HypertelorismHP:0000316
- Intellectual disabilityHP:0001249
- Iris colobomaHP:0000612
- LissencephalyHP:0001339
- Long palpebral fissureHP:0000637
- Long philtrumHP:0000343
- MicrognathiaHP:0000347
- MutismHP:0002300
- OsteochondrosisHP:0040188
- PachygyriaHP:0001302
- Pointed chinHP:0000307
- PolymicrogyriaHP:0002126
- Prominent metopic ridgeHP:0005487
- PtosisHP:0000508
- RetrognathiaHP:0000278
- SeizureHP:0001250
- Short columellaHP:0002000
- Skeletal dysplasiaHP:0002652
- Specific learning disabilityHP:0001328
- TelecanthusHP:0000506
- Thin vermilion borderHP:0000233
- Wide mouthHP:0000154
- Wide nasal bridgeHP:0000431
- Wide noseHP:0000445
Frequent (79-30%)(17)
- Abnormality of the upper urinary tractHP:0010935
- Cerebral cortical atrophyHP:0002120
- Cerebral cortical hemiatrophyHP:0100308
- Delayed cranial suture closureHP:0000270
- Heterochromia iridisHP:0001100
- HydronephrosisHP:0000126
- HydroureterHP:0000072
- Joint stiffnessHP:0001387
- Large fontanellesHP:0000239
- Long noseHP:0003189
- Low posterior hairlineHP:0002162
- MicrocephalyHP:0000252
- Prominent noseHP:0000448
- RetinoschisisHP:0030502
- Short neckHP:0000470
- Subcortical cerebral atrophyHP:0012157
- TrigonocephalyHP:0000243
Occasional (29-5%)(7)
- Duplication of thumb phalanxHP:0009942
- MicrocorneaHP:0000482
- Optic disc colobomaHP:0000588
- Palpebral edemaHP:0100540
- ScoliosisHP:0002650
- Transient ischemic attackHP:0002326
- Webbed neckHP:0000465