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

J Med Genet. 2003 Nov;40(11):e121. doi: 10.1136/jmg.40.11.e121.
No abstract available

Publication types

  • Case Reports
  • Multicenter Study

MeSH terms

  • Autistic Disorder / genetics*
  • Bone Diseases, Metabolic / genetics*
  • Child
  • Developmental Disabilities / genetics*
  • Hair / abnormalities*
  • Humans
  • Kidney Diseases, Cystic / genetics*
  • Male
  • Nephrocalcinosis / genetics*
  • Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics
  • Purine-Pyrimidine Metabolism, Inborn Errors / urine
  • Tooth Abnormalities / genetics*
  • Xanthines / urine*

Substances

  • Xanthines

Associated data

  • OMIM/278300
  • OMIM/603592