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Nephropathy-deafness-hyperparathyroidism syndrome

Disease definition

Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.

ORPHA:2668

  • Synonym(s):
    • Edwards-Patton-Dilly 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: -

Additional information

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