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Nephropathy-deafness-hyperparathyroidism syndrome

Disease definition

A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.

ORPHA:2668

Classification level: Disorder
  • Synonym(s):
    • Edwards-Patton-Dilly syndrome
    • Nephropathy-hearing loss-hyperparathyroidism syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 256120
  • UMLS: C1850553
  • MeSH: C536401
  • GARD: 3940
  • MedDRA: -

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