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Lowe-Kohn-Cohen syndrome

ORPHA:2408 · Malformation syndrome · Disorder

HPO 表現型（共 5 項）

Very frequent (99-80%)(3)

  • Anal atresiaHP:0002023
  • Anorectal anomalyHP:0012732
  • NephropathyHP:0000112

Frequent (79-30%)(2)

  • Preauricular skin tagHP:0000384
  • Sensorineural hearing impairmentHP:0000407