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Nephropathy-deafness-hyperparathyroidism syndrome

ORPHA2668
Synonym(s) Edwards-Patton-Dilly syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • Q87.8
OMIM
UMLS
  • C1850553
MeSH
  • C536401
MedDRA -

Summary

This 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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