Google   OMIM   Orphanet   PubMed

Xanthinuria, type II

Xanthine dehydrogenase and aldehyde oxidase, combined deficiency of
[Clinical features: xanthine calculi; hematuria; renal colic]
[Inheritance: autosomal recessive]

   
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects
   
Journal of Medical Genetics
   


 

Search with keyword(s) Wildcard = *
          


Print this page

Edited by Aldo Campana, February 8, 2010