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Mosaic trisomy 9 syndrome

ORPHA:99776 · Malformation syndrome · Disorder

HPO 表現型（共 62 項）

Very frequent (99-80%)(5)

  • CryptorchidismHP:0000028
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Low-set earsHP:0000369
  • MicrophthalmiaHP:0000568

Frequent (79-30%)(16)

  • Bulbous noseHP:0000414
  • Finger clinodactylyHP:0040019
  • High palateHP:0000218
  • Hip dislocationHP:0002827
  • Hypoplasia of penisHP:0008736
  • Hypoplastic female external genitaliaHP:0012815
  • Intrauterine growth retardationHP:0001511
  • Large fontanellesHP:0000239
  • Limitation of joint mobilityHP:0001376
  • MicrognathiaHP:0000347
  • OligohydramniosHP:0001562
  • Rocker bottom footHP:0001838
  • Short neckHP:0000470
  • Talipes equinovarusHP:0001762
  • Tessier cleftHP:0002006
  • Ventricular septal defectHP:0001629

Occasional (29-5%)(41)

  • Abnormal fallopian tube morphologyHP:0011027
  • Abnormal heart valve morphologyHP:0001654
  • Abnormal liver lobulationHP:0100752
  • Abnormal lung lobationHP:0002101
  • Abnormality of the uterusHP:0000130
  • AspleniaHP:0001746
  • Atrial septal defectHP:0001631
  • Biparietal narrowingHP:0004422
  • Camptodactyly of fingerHP:0100490
  • Cleft palateHP:0000175
  • Corneal opacityHP:0007957
  • Cystic hygromaHP:0000476
  • Dandy-Walker malformationHP:0001305
  • Deep palmar creaseHP:0006191
  • Deep plantar creasesHP:0001869
  • DextrocardiaHP:0001651
  • Elbow dislocationHP:0003042
  • Endocardial fibroelastosisHP:0001706
  • HemivertebraeHP:0002937
  • Horseshoe kidneyHP:0000085
  • HydronephrosisHP:0000126
  • Hydrops fetalisHP:0001789
  • HypertelorismHP:0000316
  • HypotelorismHP:0000601
  • Intestinal malrotationHP:0002566
  • MicrocephalyHP:0000252
  • MicromeliaHP:0002983
  • Multiple renal cystsHP:0005562
  • Patent ductus arteriosusHP:0001643
  • PolyhydramniosHP:0001561
  • Prominent occiputHP:0000269
  • Renal dysplasiaHP:0000110
  • ScoliosisHP:0002650
  • Single umbilical arteryHP:0001195
  • Skeletal dysplasiaHP:0002652
  • Small nailHP:0001792
  • Spina bifidaHP:0002414
  • Supernumerary ribsHP:0005815
  • Upslanted palpebral fissureHP:0000582
  • VentriculomegalyHP:0002119
  • Webbed neckHP:0000465