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Mosaic monosomy X syndrome
ORPHA:99228 · Etiological subtype · Subtype of disorder
HPO 表現型（共 113 項）
Very frequent (99-80%)(21)
- Abnormal forearm bone morphologyHP:0040072
- Abnormality of the ovaryHP:0000137
- Aplasia/Hypoplasia of the nipplesHP:0006709
- Cubitus valgusHP:0002967
- Delayed pubertyHP:0000823
- Delayed skeletal maturationHP:0002750
- Enlarged thoraxHP:0100625
- Female infertilityHP:0008222
- Growth delayHP:0001510
- High urinary gonadotropin levelHP:0003492
- Increased circulating gonadotropin levelHP:0000837
- Increased upper to lower segment ratioHP:0012774
- Intrauterine growth retardationHP:0001511
- OsteopeniaHP:0000938
- OsteoporosisHP:0000939
- Postnatal growth retardationHP:0008897
- Premature ovarian insufficiencyHP:0008209
- Short neckHP:0000470
- Short statureHP:0004322
- Short sternumHP:0000879
- Wide intermamillary distanceHP:0006610
Frequent (79-30%)(37)
- Abnormal dermatoglyphicsHP:0007477
- Abnormal nonverbal communicative behaviorHP:0000758
- AnxietyHP:0000739
- Aortic arch aneurysmHP:0005113
- Atypical behaviorHP:0000708
- Broad neckHP:0000475
- Dermatoglyphic ridges abnormalHP:0005689
- Elevated circulating hepatic transaminase concentrationHP:0002910
- Enlargement of the distal femoral epiphysisHP:0006438
- Failure to thrive in infancyHP:0001531
- Genu valgumHP:0002857
- Glucose intoleranceHP:0001952
- Hashimoto thyroiditisHP:0000872
- Hearing impairmentHP:0000365
- Hepatic steatosisHP:0001397
- High palateHP:0000218
- High, narrow palateHP:0002705
- Hypermobility of toe jointsHP:0010510
- HypertensionHP:0000822
- Hypoplastic toenailsHP:0001800
- Irregular proximal tibial epiphysesHP:0006456
- KyphosisHP:0002808
- Low posterior hairlineHP:0002162
- Low-set earsHP:0000369
- MicrognathiaHP:0000347
- Neck pterygiaHP:0009759
- ObesityHP:0001513
- Primary amenorrheaHP:0000786
- Recurrent otitis mediaHP:0000403
- RetrognathiaHP:0000278
- Secondary amenorrheaHP:0000869
- Shield chestHP:0000914
- Short 4th metacarpalHP:0010044
- Short 5th metacarpalHP:0010047
- Specific learning disabilityHP:0001328
- Thickened nuchal skin foldHP:0000474
- Webbed neckHP:0000465
Occasional (29-5%)(43)
- Abnormal fingernail morphologyHP:0001231
- Abnormal pinna morphologyHP:0000377
- Abnormality of the dentitionHP:0000164
- AlopeciaHP:0001596
- Aplasia/Hypoplasia of the mandibleHP:0009118
- Atrial septal defectHP:0001631
- Attention deficit hyperactivity disorderHP:0007018
- Atypical scarring of skinHP:0000987
- AutoimmunityHP:0002960
- Bicuspid aortic valveHP:0001647
- Celiac diseaseHP:0002608
- Cholestatic liver diseaseHP:0002611
- Coarctation of aortaHP:0001680
- Cystic hygromaHP:0000476
- Delayed early-childhood social milestone developmentHP:0012434
- DepressionHP:0000716
- Ectopic kidneyHP:0000086
- EpicanthusHP:0000286
- Hepatic fibrosisHP:0001395
- Hip dysplasiaHP:0001385
- Horseshoe kidneyHP:0000085
- Hyperconvex fingernailsHP:0001812
- HyperinsulinemiaHP:0000842
- Inverted nipplesHP:0003186
- LymphedemaHP:0001004
- Madelung deformityHP:0003067
- Melanocytic nevusHP:0000995
- Myocardial infarctionHP:0001658
- MyopiaHP:0000545
- NevusHP:0003764
- Numerous congenital melanocytic neviHP:0005603
- Pectus excavatumHP:0000767
- Pes planusHP:0001763
- Prolonged QT intervalHP:0001657
- PtosisHP:0000508
- Reduced bone mineral densityHP:0004349
- ScoliosisHP:0002650
- Short toeHP:0001831
- Splayed toesHP:0011307
- StrabismusHP:0000486
- ThyroiditisHP:0100646
- Type II diabetes mellitusHP:0005978
- VitiligoHP:0001045
Very rare (<4-1%)(12)
- Aortic dissectionHP:0002647
- Arterial dissectionHP:0005294
- Biliary cirrhosisHP:0002613
- CirrhosisHP:0001394
- Gastrointestinal angiodysplasiaHP:0000471
- Gastrointestinal inflammationHP:0004386
- GonadoblastomaHP:0000150
- Hypoplastic left ventricleHP:0004383
- Inflammation of the large intestineHP:0002037
- MelanomaHP:0002861
- Neurodevelopmental delayHP:0012758
- Renal hypoplasia/aplasiaHP:0008678