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Tetrasomy 9p syndrome
ORPHA:3310 · Malformation syndrome · Disorder
HPO 表現型（共 82 項）
Frequent (79-30%)(12)
- Abnormal earlobe morphologyHP:0000363
- AmblyopiaHP:0000646
- Convex nasal ridgeHP:0000444
- Deeply set eyeHP:0000490
- Delayed speech and language developmentHP:0000750
- Downslanted palpebral fissuresHP:0000494
- Global developmental delayHP:0001263
- HypertelorismHP:0000316
- MicrognathiaHP:0000347
- MyopiaHP:0000545
- PilomatrixomaHP:0030434
- StrabismusHP:0000486
Occasional (29-5%)(54)
- Abnormal cardiac septum morphologyHP:0001671
- Abnormal chorioretinal morphologyHP:0000532
- Abnormal dental enamel morphologyHP:0000682
- Abnormal mitral valve morphologyHP:0001633
- Abnormal number of permanent teethHP:0011044
- Abnormal spinal cord morphologyHP:0002143
- Absent gallbladderHP:0011467
- Aplasia/Hypoplasia of the claviclesHP:0006710
- ArthritisHP:0001369
- Bifid uvulaHP:0000193
- Bilateral single transverse palmar creasesHP:0007598
- Biliary atresiaHP:0005912
- Bulbous noseHP:0000414
- Cleft palateHP:0000175
- Clinodactyly of the 5th fingerHP:0004209
- CryptorchidismHP:0000028
- Dandy-Walker malformationHP:0001305
- Dental crowdingHP:0000678
- Downturned corners of mouthHP:0002714
- EpicanthusHP:0000286
- ExotropiaHP:0000577
- FatigueHP:0012378
- Generalized hypotoniaHP:0001290
- Glue earHP:0040262
- HemihypertrophyHP:0001528
- High palateHP:0000218
- HydrocephalusHP:0000238
- HydronephrosisHP:0000126
- Hypoplastic scapulaeHP:0000882
- InfertilityHP:0000789
- Intrauterine growth retardationHP:0001511
- JaundiceHP:0000952
- Joint dislocationHP:0001373
- Large fontanellesHP:0000239
- Median cleft palateHP:0009099
- Missing ribsHP:0000921
- Multiple renal cystsHP:0005562
- MyositisHP:0100614
- NystagmusHP:0000639
- OligozoospermiaHP:0000798
- PachygyriaHP:0001302
- PericarditisHP:0001701
- PolymicrogyriaHP:0002126
- Raynaud phenomenonHP:0030880
- Recurrent urinary tract infectionsHP:0000010
- Renal dysplasiaHP:0000110
- Sacral dimpleHP:0000960
- SeizureHP:0001250
- Short neckHP:0000470
- Small handHP:0200055
- Small toeHP:0030031
- Specific learning disabilityHP:0001328
- Systemic lupus erythematosusHP:0002725
- Talipes equinovarusHP:0001762
Very rare (<4-1%)(16)
- Amelogenesis imperfectaHP:0000705
- Autistic behaviorHP:0000729
- DextrocardiaHP:0001651
- Feeding difficultiesHP:0011968
- Horseshoe kidneyHP:0000085
- HyperactivityHP:0000752
- Inappropriate behaviorHP:0000719
- Juxtaductal coarctation of the aortaHP:0011646
- LissencephalyHP:0001339
- MacrocephalyHP:0000256
- MicropenisHP:0000054
- Patent foramen ovaleHP:0001655
- Pulmonary arterial hypertensionHP:0002092
- Pulmonary hypoplasiaHP:0002089
- Short philtrumHP:0000322
- Umbilical herniaHP:0001537