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Eng-Strom syndrome

ORPHA:1937 · Malformation syndrome · Disorder

HPO 表現型(共 9 項)

Very frequent (99-80%)(3)

  • Camptodactyly of fingerHP:0100490
  • Intrauterine growth retardationHP:0001511
  • Short statureHP:0004322

Frequent (79-30%)(6)

  • Abnormal cardiac septum morphologyHP:0001671
  • ArthritisHP:0001369
  • BrachydactylyHP:0001156
  • Pectus excavatumHP:0000767
  • ScoliosisHP:0002650
  • Ventricular septal defectHP:0001629