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X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
ORPHA:480880 · Malformation syndrome · Disorder
HPO 表現型（共 90 項）
Very frequent (99-80%)(2)
- Global developmental delayHP:0001263
- Moderate intellectual disabilityHP:0002342
Frequent (79-30%)(11)
- Abnormal cortical gyrationHP:0002536
- Abnormality of the eyeHP:0000478
- Abnormality of the genitourinary systemHP:0000119
- Anal atresiaHP:0002023
- Choanal atresiaHP:0000453
- Dandy-Walker malformationHP:0001305
- Depigmentation/hyperpigmentation of skinHP:0007483
- Floppy infantHP:0008947
- Hypoplasia of the corpus callosumHP:0002079
- Postaxial polydactylyHP:0100259
- Short statureHP:0004322
Occasional (29-5%)(77)
- 1-minute APGAR score of 1HP:0030928
- 5-minute APGAR score of 5HP:0030925
- Abnormal abdominal wall morphologyHP:0004298
- Abnormal circulating thyroid hormone concentrationHP:0031508
- Abnormal periodontium morphologyHP:0410026
- Abnormality of the dentitionHP:0000164
- Aplasia/Hypoplasia of the cerebellumHP:0007360
- AstigmatismHP:0000483
- Atrial septal defectHP:0001631
- BrachycephalyHP:0000248
- Brain atrophyHP:0012444
- CardiomyopathyHP:0001638
- CataractHP:0000518
- Cerebellar hypoplasiaHP:0001321
- Cerebellar vermis hypoplasiaHP:0001320
- Cleft palateHP:0000175
- Congenital hip dislocationHP:0001374
- Curly hairHP:0002212
- Curved fingersHP:0004095
- Cyst of the ductus choledochusHP:0100890
- Delayed pubertyHP:0000823
- Depressed nasal bridgeHP:0005280
- Dilated fourth ventricleHP:0002198
- Downslanted palpebral fissuresHP:0000494
- Facial asymmetryHP:0000324
- Feeding difficultiesHP:0011968
- Flared nostrilsHP:0000454
- Gait disturbanceHP:0001288
- Gingival overgrowthHP:0000212
- Hallux valgusHP:0001822
- Hearing impairmentHP:0000365
- High palateHP:0000218
- Hip dysplasiaHP:0001385
- HydronephrosisHP:0000126
- Hyperextensible thumbHP:0005722
- HypermetropiaHP:0000540
- HypertrichosisHP:0000998
- Hypoplasia of the brainstemHP:0002365
- Hypoplastic nipplesHP:0002557
- Joint hypermobilityHP:0001382
- Limitation of joint mobilityHP:0001376
- Long philtrumHP:0000343
- Low-set earsHP:0000369
- MyopiaHP:0000545
- Narrow foreheadHP:0000341
- NeoplasmHP:0002664
- OsteopeniaHP:0000938
- Overlapping toeHP:0001845
- Patellar subluxationHP:0010499
- Patent ductus arteriosusHP:0001643
- Pes cavusHP:0001761
- Pes planusHP:0001763
- Posteriorly rotated earsHP:0000358
- Prominent foreheadHP:0011220
- Prominent nasolabial foldHP:0005272
- Prominent noseHP:0000448
- Recurrent upper and lower respiratory tract infectionsHP:0200117
- Renal dysplasiaHP:0000110
- Respiratory distressHP:0002098
- Sacral dimpleHP:0000960
- ScoliosisHP:0002650
- SeizureHP:0001250
- Short footHP:0001773
- Short palpebral fissureHP:0012745
- Slender fingerHP:0001238
- Small handHP:0200055
- StrabismusHP:0000486
- Tapered fingerHP:0001182
- TelecanthusHP:0000506
- Thick vermilion borderHP:0012471
- Thin upper lip vermilionHP:0000219
- Thoracolumbar scoliosisHP:0002944
- Tooth malpositionHP:0000692
- Upslanted palpebral fissureHP:0000582
- VentriculomegalyHP:0002119
- Wide nasal baseHP:0012810
- Wide nasal bridgeHP:0000431