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Nephropathy-deafness-hyperparathyroidism syndrome

ORPHA:2668 · Malformation syndrome · Disorder

HPO 表現型（共 8 項）

Very frequent (99-80%)(1)

  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(6)

  • Bone cystHP:0012062
  • GlomerulopathyHP:0100820
  • HypercalcemiaHP:0003072
  • HyperparathyroidismHP:0000843
  • ProteinuriaHP:0000093
  • Renal insufficiencyHP:0000083

Occasional (29-5%)(1)

  • AnemiaHP:0001903