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48,XXXY syndrome

ORPHA:96263 · Malformation syndrome · Disorder

HPO 表現型（共 62 項）

Very frequent (99-80%)(7)

  • AzoospermiaHP:0000027
  • Decreased testicular sizeHP:0008734
  • Global developmental delayHP:0001263
  • HypogonadismHP:0000135
  • InfertilityHP:0000789
  • Language impairmentHP:0002463
  • Mild intellectual disabilityHP:0001256

Frequent (79-30%)(29)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal epiphysis morphologyHP:0005930
  • AsthmaHP:0002099
  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • Carious teethHP:0000670
  • Chronic otitis mediaHP:0000389
  • Clinodactyly of the 5th fingerHP:0004209
  • ConstipationHP:0002019
  • CryptorchidismHP:0000028
  • Delayed eruption of teethHP:0000684
  • Depressed nasal ridgeHP:0000457
  • Down-sloping shouldersHP:0200021
  • Elbow dislocationHP:0003042
  • EpicanthusHP:0000286
  • GynecomastiaHP:0000771
  • HypertelorismHP:0000316
  • Hypoplasia of penisHP:0008736
  • HypotoniaHP:0001252
  • Joint hypermobilityHP:0001382
  • Open biteHP:0010807
  • Pes planusHP:0001763
  • Radioulnar synostosisHP:0002974
  • Recurrent respiratory infectionsHP:0002205
  • Small scrotumHP:0000046
  • StrabismusHP:0000486
  • Tall statureHP:0000098
  • TaurodontiaHP:0000679
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(26)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal social behaviorHP:0012433
  • Aggressive behaviorHP:0000718
  • AnxietyHP:0000739
  • BlepharophimosisHP:0000581
  • BrachycephalyHP:0000248
  • Cleft palateHP:0000175
  • Coxa valgaHP:0002673
  • Delayed speech and language developmentHP:0000750
  • Facial asymmetryHP:0000324
  • Gastroesophageal refluxHP:0002020
  • Hip dislocationHP:0002827
  • Inguinal herniaHP:0000023
  • IrritabilityHP:0000737
  • Mandibular prognathiaHP:0000303
  • ObesityHP:0001513
  • Pulmonary embolismHP:0002204
  • Renal dysplasiaHP:0000110
  • SchizophreniaHP:0100753
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short neckHP:0000470
  • Talipes equinovarusHP:0001762
  • TremorHP:0001337
  • Type II diabetes mellitusHP:0005978
  • Venous thrombosisHP:0004936