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Adult familial nephronophtisis - spastic quadriparesia

Orpha number ORPHA2666
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Unknown
Age of onset Adulthood
ICD-10 -
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.


Last update: June 2006

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