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Xp22.13p22.2 duplication syndrome

ORPHA:284180 · Malformation syndrome · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(24)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal facial shapeHP:0001999
  • Abnormally high-pitched voiceHP:0001620
  • Broad nasal tipHP:0000455
  • Congenital diaphragmatic herniaHP:0000776
  • Downslanted palpebral fissuresHP:0000494
  • Flared nostrilsHP:0000454
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • MacroorchidismHP:0000053
  • Mandibular prognathiaHP:0000303
  • MicrocephalyHP:0000252
  • Moderate global developmental delayHP:0011343
  • Moderate intellectual disabilityHP:0002342
  • Pectus excavatumHP:0000767
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Slowed slurred speechHP:0007164
  • Small handHP:0200055
  • Sparse hairHP:0008070
  • Tapered fingerHP:0001182
  • Truncal obesityHP:0001956
  • Umbilical herniaHP:0001537

Occasional (29-5%)(10)

  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • Hearing impairmentHP:0000365
  • High anterior hairlineHP:0009890
  • HypermetropiaHP:0000540
  • Polycystic ovariesHP:0000147
  • Recurrent upper respiratory tract infectionsHP:0002788
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • StrabismusHP:0000486