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Müllerian duct anomalies-limb anomalies syndrome

ORPHA:2491 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Frequent (79-30%)(11)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormality of the elbowHP:0009811
  • Abnormality of the wristHP:0003019
  • Aplasia/Hypoplasia of the ulnaHP:0006495
  • Hypoplasia of penisHP:0008736
  • MicrocephalyHP:0000252
  • MicromeliaHP:0002983
  • Short humerusHP:0005792
  • Short statureHP:0004322
  • Split handHP:0001171
  • Uterus didelphysHP:0003762

Occasional (29-5%)(3)

  • HypothyroidismHP:0000821
  • Postaxial hand polydactylyHP:0001162
  • StrabismusHP:0000486