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Xp22.3 microdeletion syndrome

ORPHA:1643 · Malformation syndrome · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(3)

  • Abnormality of chromosome segregationHP:0002916
  • Secondary amenorrheaHP:0000869
  • Short statureHP:0004322

Frequent (79-30%)(7)

  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Decreased fertilityHP:0000144
  • Hypogonadotropic hypogonadismHP:0000044
  • MyopiaHP:0000545
  • Opacification of the corneal stromaHP:0007759
  • Polycystic ovariesHP:0000147

Occasional (29-5%)(2)

  • Ectopic anusHP:0004397
  • Sacral dimpleHP:0000960