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Corneal dystrophy-perceptive deafness syndrome

ORPHA:1490 · Malformation syndrome · Disorder

HPO 表現型（共 5 項）

Very frequent (99-80%)(4)

  • Corneal dystrophyHP:0001131
  • Corneal opacityHP:0007957
  • Sensorineural hearing impairmentHP:0000407
  • Visual impairmentHP:0000505

Frequent (79-30%)(1)

  • NystagmusHP:0000639