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Opitz GBBB syndrome

ORPHA:2745 · Malformation syndrome · Disorder

HPO 表現型（共 75 項）

Very frequent (99-80%)(4)

  • HypertelorismHP:0000316
  • Long philtrumHP:0000343
  • Prominent foreheadHP:0011220
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(16)

  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormal facial shapeHP:0001999
  • Anteverted naresHP:0000463
  • Cleft lipHP:0410030
  • Cleft palateHP:0000175
  • HypospadiasHP:0000047
  • Intellectual disabilityHP:0001249
  • Laryngeal cleftHP:0008751
  • Neurodevelopmental delayHP:0012758
  • PtosisHP:0000508
  • Short attention spanHP:0000736
  • Short statureHP:0004322
  • Specific learning disabilityHP:0001328
  • TelecanthusHP:0000506
  • VentriculomegalyHP:0002119
  • Widow's peakHP:0000349

Occasional (29-5%)(46)

  • Abnormal brain morphologyHP:0012443
  • Abnormal heart morphologyHP:0001627
  • Abnormality of the genitourinary systemHP:0000119
  • Abnormality of the urinary systemHP:0000079
  • Agenesis of corpus callosumHP:0001274
  • Anal atresiaHP:0002023
  • Aortic root aneurysmHP:0002616
  • Aplasia/Hypoplasia of the cerebellar vermisHP:0006817
  • Atrial septal defectHP:0001631
  • Autistic behaviorHP:0000729
  • Bifid scrotumHP:0000048
  • Coarctation of aortaHP:0001680
  • Congenital diaphragmatic herniaHP:0000776
  • CraniosynostosisHP:0001363
  • CryptorchidismHP:0000028
  • Dandy-Walker malformationHP:0001305
  • Delayed ability to walkHP:0031936
  • Downslanted palpebral fissuresHP:0000494
  • DysphagiaHP:0002015
  • Ectopic anusHP:0004397
  • Enlarged ovariesHP:0100879
  • Feeding difficulties in infancyHP:0008872
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • HydronephrosisHP:0000126
  • Hypoplasia of the corpus callosumHP:0002079
  • Inguinal herniaHP:0000023
  • Large fontanellesHP:0000239
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • OmphaloceleHP:0001539
  • Patent ductus arteriosusHP:0001643
  • Patent foramen ovaleHP:0001655
  • Persistent left superior vena cavaHP:0005301
  • Poor speechHP:0002465
  • Posteriorly rotated earsHP:0000358
  • Preauricular pitHP:0004467
  • Prominent metopic ridgeHP:0005487
  • Recurrent aspiration pneumoniaHP:0002100
  • Shawl scrotumHP:0000049
  • StridorHP:0010307
  • Tracheoesophageal fistulaHP:0002575
  • Umbilical herniaHP:0001537
  • Ventricular septal defectHP:0001629
  • Vesicoureteral refluxHP:0000076

Very rare (<4-1%)(9)

  • Abnormality of refractionHP:0000539
  • AnkyloglossiaHP:0010296
  • Bicornuate uterusHP:0000813
  • HypodontiaHP:0000668
  • Natal toothHP:0000695
  • StrabismusHP:0000486
  • Thyroglossal cystHP:0010518
  • TracheomalaciaHP:0002779
  • Vertebral segmentation defectHP:0003422