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Auriculoosteodysplasia

ORPHA:114 · Malformation syndrome · Disorder

HPO 表現型(共 10 項)

Very frequent (99-80%)(6)

  • Abnormal clavicle morphologyHP:0000889
  • Aplasia/Hypoplasia of the earlobesHP:0009906
  • Aplasia/Hypoplasia of the radiusHP:0006501
  • Attached earlobeHP:0009907
  • Elbow dislocationHP:0003042
  • Short statureHP:0004322

Frequent (79-30%)(1)

  • Hip dysplasiaHP:0001385

Occasional (29-5%)(3)

  • Abnormal metacarpal morphologyHP:0005916
  • Abnormality of the wristHP:0003019
  • MacrotiaHP:0000400