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Lowry-Wood syndrome

ORPHA:1824 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(5)

  • Abnormal epiphysis morphologyHP:0005930
  • Epiphyseal dysplasiaHP:0002656
  • Irregular epiphysesHP:0010582
  • MicrocephalyHP:0000252
  • Short statureHP:0004322

Frequent (79-30%)(5)

  • Abnormal retinal pigmentationHP:0007703
  • ArthralgiaHP:0002829
  • Coxa varaHP:0002812
  • Intellectual disabilityHP:0001249
  • NystagmusHP:0000639

Occasional (29-5%)(11)

  • Abnormality of nail colorHP:0100643
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • AstigmatismHP:0000483
  • BrachydactylyHP:0001156
  • Delayed skeletal maturationHP:0002750
  • Dislocated radial headHP:0003083
  • Elbow dislocationHP:0003042
  • Joint stiffnessHP:0001387
  • Patellar dislocationHP:0002999
  • PlatyspondylyHP:0000926
  • Visual impairmentHP:0000505