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22q11.2 duplication syndrome

ORPHA:1727 · Malformation syndrome · Disorder

HPO 表現型（共 40 項）

Frequent (79-30%)(15)

  • Abnormal speech patternHP:0002167
  • Abnormality of the pharynxHP:0000600
  • Cleft palateHP:0000175
  • Delayed speech and language developmentHP:0000750
  • Depressed nasal ridgeHP:0000457
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Global developmental delayHP:0001263
  • High foreheadHP:0000348
  • Hypernasal speechHP:0001611
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Midface retrusionHP:0011800
  • Narrow faceHP:0000275

Occasional (29-5%)(25)

  • Abnormality of immune system physiologyHP:0010978
  • Anterior creases of earlobeHP:0009908
  • AnxietyHP:0000739
  • Aplasia/Hypoplasia of the thymusHP:0010515
  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • Compulsive behaviorsHP:0000722
  • Displacement of the urethral meatusHP:0100627
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • HydronephrosisHP:0000126
  • Hypoplastic left ventricleHP:0004383
  • Interrupted aortic archHP:0011611
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Motor stereotypyHP:0000733
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Smooth philtrumHP:0000319
  • Tetralogy of FallotHP:0001636
  • Transposition of the great arteriesHP:0001669
  • Urethral stenosisHP:0008661
  • Ventricular septal defectHP:0001629
  • Wide noseHP:0000445