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Ulnar/fibula ray defect-brachydactyly syndrome

ORPHA:52056 · Malformation syndrome · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(1)

  • Growth delayHP:0001510

Frequent (79-30%)(6)

  • Aplasia/Hypoplasia of the fibulaHP:0006492
  • Aplasia/Hypoplasia of the ulnaHP:0006495
  • BrachydactylyHP:0001156
  • Malar flatteningHP:0000272
  • Short 5th fingerHP:0009237
  • Short statureHP:0004322

Occasional (29-5%)(5)

  • Atrial septal defectHP:0001631
  • HemangiomaHP:0001028
  • Postaxial oligodactylyHP:0006210
  • Short footHP:0001773
  • Talipes equinovarusHP:0001762