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Cataract-nephropathy-encephalopathy syndrome

ORPHA:1380 · Malformation syndrome · Disorder

HPO 表現型（共 6 項）

Very frequent (99-80%)(5)

  • CataractHP:0000518
  • Intellectual disabilityHP:0001249
  • Renal tubular dysfunctionHP:0000124
  • SeizureHP:0001250
  • Short statureHP:0004322

Frequent (79-30%)(1)

  • NystagmusHP:0000639