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Weill-Marchesani syndrome

ORPHA:3449 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(6)

  • BrachydactylyHP:0001156
  • GlaucomaHP:0000501
  • High myopiaHP:0011003
  • MicrospherophakiaHP:0030961
  • Short statureHP:0004322
  • Short thumbHP:0009778

Frequent (79-30%)(4)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Ectopia lentisHP:0001083
  • Limitation of joint mobilityHP:0001376
  • Thickened skinHP:0001072

Occasional (29-5%)(11)

  • Aortic valve stenosisHP:0001650
  • CataractHP:0000518
  • Delayed skeletal maturationHP:0002750
  • Joint stiffnessHP:0001387
  • Mild intellectual disabilityHP:0001256
  • Mitral regurgitationHP:0001653
  • Patent ductus arteriosusHP:0001643
  • Prolonged QTc intervalHP:0005184
  • Pulmonic stenosisHP:0001642
  • Ventricular septal defectHP:0001629
  • Visual lossHP:0000572