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Lesch-nyhan syndrome, neurologic variant

MedGen UID:
337460
•Concept ID:
C1845892
•
Disease or Syndrome
Synonyms: HPRT Deficiency, Neurologic Variant; Lesch-Nyhan Syndrome, Neurologic Variant
 
OMIM®: 300322; 308000

Recent clinical studies

Etiology

Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.
Schretlen DJ, Varvaris M, Vannorsdall TD, Gordon B, Harris JC, Jinnah HA
Neurology 2015 Jan 13;84(2):190-6. Epub 2014 Dec 10 doi: 10.1212/WNL.0000000000001128. PMID: 25503620Free PMC Article

Clinical prediction guides

Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.
Schretlen DJ, Varvaris M, Vannorsdall TD, Gordon B, Harris JC, Jinnah HA
Neurology 2015 Jan 13;84(2):190-6. Epub 2014 Dec 10 doi: 10.1212/WNL.0000000000001128. PMID: 25503620Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      Related literature resources in PubMed

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