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Absence deformity of leg-cataract syndrome

ORPHA:2310 · Malformation syndrome · Disorder

HPO 表現型（共 9 項）

Very frequent (99-80%)(8)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal femur morphologyHP:0002823
  • Abnormality of the lower limbHP:0002814
  • CataractHP:0000518
  • HyperlordosisHP:0003307
  • Lower limb undergrowthHP:0009816
  • ScoliosisHP:0002650
  • Visual impairmentHP:0000505

Frequent (79-30%)(1)

  • Anal atresiaHP:0002023