← 返回搜尋

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

ORPHA:353281 · Etiological subtype · Subtype of disorder

HPO 表現型（共 88 項）

Very frequent (99-80%)(3)

  • Abnormal facial shapeHP:0001999
  • Delayed speech and language developmentHP:0000750
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(31)

  • Abnormal fear-induced behaviorHP:0100852
  • Abnormal heart morphologyHP:0001627
  • Abnormal proximal phalanx morphology of the handHP:0009834
  • Abnormality of the urinary systemHP:0000079
  • AgoraphobiaHP:0000756
  • Atypical behaviorHP:0000708
  • Broad distal phalanx of fingerHP:0009836
  • Broad halluxHP:0010055
  • Broad thumbHP:0011304
  • Compulsive behaviorsHP:0000722
  • ConstipationHP:0002019
  • Convex nasal ridgeHP:0000444
  • CryptorchidismHP:0000028
  • Delayed skeletal maturationHP:0002750
  • EEG abnormalityHP:0002353
  • Emotional labilityHP:0000712
  • Failure to thriveHP:0001508
  • Gastroesophageal refluxHP:0002020
  • ImpulsivityHP:0100710
  • Low hanging columellaHP:0009765
  • Motor stereotypyHP:0000733
  • Narrow palateHP:0000189
  • ObesityHP:0001513
  • Obstructive sleep apneaHP:0002870
  • Panic attackHP:0025269
  • Recurrent respiratory infectionsHP:0002205
  • Reduced social responsivenessHP:0012760
  • Secondary microcephalyHP:0005484
  • Short statureHP:0004322
  • Social and occupational deteriorationHP:0007086
  • Talon cuspHP:0011087

Occasional (29-5%)(37)

  • Abnormal curvature of the vertebral columnHP:0010674
  • Abnormal posterior cranial fossa morphologyHP:0000932
  • Abnormality of refractionHP:0000539
  • Abnormality of the cervical spineHP:0003319
  • Absent speechHP:0001344
  • Aggressive behaviorHP:0000718
  • Atrial septal defectHP:0001631
  • Avascular necrosis of the capital femoral epiphysisHP:0005743
  • Cardiac conduction abnormalityHP:0031546
  • Carious teethHP:0000670
  • Chiari malformationHP:0002308
  • Conductive hearing impairmentHP:0000405
  • Dental crowdingHP:0000678
  • Dental malocclusionHP:0000689
  • GlaucomaHP:0000501
  • Growth delayHP:0001510
  • HydronephrosisHP:0000126
  • HyperactivityHP:0000752
  • HypodontiaHP:0000668
  • HypospadiasHP:0000047
  • HypotoniaHP:0001252
  • Joint hypermobilityHP:0001382
  • KeloidsHP:0010562
  • Kidney stoneHP:0000787
  • NeoplasmHP:0002664
  • Otitis mediaHP:0000388
  • Patellar dislocationHP:0002999
  • Patent ductus arteriosusHP:0001643
  • PneumoniaHP:0002090
  • Recurrent urinary tract infectionsHP:0000010
  • RetinopathyHP:0000488
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716
  • Sensorineural hearing impairmentHP:0000407
  • Supernumerary toothHP:0011069
  • Ventricular septal defectHP:0001629
  • Vesicoureteral refluxHP:0000076

Very rare (<4-1%)(17)

  • Aortic valve stenosisHP:0001650
  • AsthmaHP:0002099
  • Bicuspid aortic valveHP:0001647
  • CataractHP:0000518
  • Cellular immunodeficiencyHP:0005374
  • Cervical cord compressionHP:0002341
  • Coarctation of aortaHP:0001680
  • ColobomaHP:0000589
  • Humoral immunodeficiencyHP:0005363
  • Intestinal malrotationHP:0002566
  • MeningiomaHP:0002858
  • Natal toothHP:0000695
  • PilomatrixomaHP:0030434
  • Pulmonic stenosisHP:0001642
  • Spinal cord tumorHP:0010302
  • SyringomyeliaHP:0003396
  • Vascular ringHP:0010775