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Distal duplication 14q syndrome

ORPHA:1705 · Malformation syndrome · Disorder

HPO 表現型（共 10 項）

Very frequent (99-80%)(3)

  • Abnormality of chromosome segregationHP:0002916
  • Cognitive impairmentHP:0100543
  • Short statureHP:0004322

Frequent (79-30%)(7)

  • Abnormal aortic morphologyHP:0001679
  • Abnormal lung lobationHP:0002101
  • Abnormality of the upper urinary tractHP:0010935
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • GlaucomaHP:0000501
  • Hearing impairmentHP:0000365
  • Patent ductus arteriosusHP:0001643