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Nephropathy-deafness-hyperparathyroidism syndrome

Synonym(s) Edwards-Patton-Dilly syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
  • Q87.8
  • C1850553
  • C536401
MedDRA -


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.

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