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Cutis laxa-Marfanoid syndrome

ORPHA:171719 · Malformation syndrome · Disorder

HPO 表現型（共 8 項）

Very frequent (99-80%)(7)

  • ArachnodactylyHP:0001166
  • Congenital diaphragmatic herniaHP:0000776
  • EmphysemaHP:0002097
  • Flexion contractureHP:0001371
  • Hip dislocationHP:0002827
  • Limitation of joint mobilityHP:0001376
  • Redundant skinHP:0001582

Frequent (79-30%)(1)

  • Abnormal heart valve morphologyHP:0001654