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Pentasomy X syndrome

ORPHA:11 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(2)

  • HypotoniaHP:0001252
  • Posteriorly rotated earsHP:0000358

Frequent (79-30%)(15)

  • Camptodactyly of fingerHP:0100490
  • Clinodactyly of the 5th fingerHP:0004209
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • PlagiocephalyHP:0001357
  • Radioulnar synostosisHP:0002974
  • Short footHP:0001773
  • Short statureHP:0004322
  • Small handHP:0200055
  • StrabismusHP:0000486
  • Upslanted palpebral fissureHP:0000582
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(5)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormality of immune system physiologyHP:0010978
  • Delayed pubertyHP:0000823
  • Hip dysplasiaHP:0001385
  • Patent ductus arteriosusHP:0001643