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Isolated humero-radial synostosis

ORPHA:3265 · Morphological anomaly · Disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(2)

  • Elbow ankylosisHP:0003070
  • Limitation of joint mobilityHP:0001376

Frequent (79-30%)(1)

  • Elbow dislocationHP:0003042

Occasional (29-5%)(8)

  • Abnormality of the wristHP:0003019
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • Chorioretinal colobomaHP:0000567
  • Iris colobomaHP:0000612
  • MeningoceleHP:0002435
  • MicrocephalyHP:0000252
  • Tarsal synostosisHP:0008368