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XLMR database.

D A Cabezas1, J F Arena, R E Stevenson

  • 1University of Miami School of Medicine, Miami, Florida, USA.

American Journal of Medical Genetics
|July 9, 1999
PubMed
Summary
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The updated X-linked mental retardation (XLMR) database now includes 123 syndromes and 59 nonspecific XLMR families. Enhanced search functionality allows for detailed clinical finding queries, improving research accessibility.

Area of Science:

  • Genetics
  • Neurology
  • Medical Informatics

Background:

  • The X-linked mental retardation (XLMR) database, established in 1991, serves as a critical resource for genetic and neurological research.
  • Previous versions required updates to encompass the growing knowledge of XLMR disorders and related families.

Purpose of the Study:

  • To present a comprehensively updated computer database of X-linked mental retardation (XLMR) disorders and nonspecific (MRX) families.
  • To enhance the database's search capabilities for improved clinical and genetic research.

Main Methods:

  • The database was updated to include 123 syndromes and 59 nonspecific XLMR families, incorporating data from the Miami/Greenwood study.
  • Clinical reports were reviewed and revised; a new search mechanism with 740 keywords was implemented, recognizing diverse clinical terms.

Related Experiment Videos

  • The system allows searches based on any clinical finding or combination thereof.

    • Main Results:

    • The updated database now encompasses 123 syndromes, 59 nonspecific XLMR families, and 60 families from the Miami/Greenwood study.
    • A revised search mechanism with 740 keywords enables detailed queries based on clinical findings.
    • Each disorder entry provides a graphic display with clinical findings, references, keywords, map localization, molecular information, images, and OMIM number.

    Conclusions:

    • The enhanced database provides a more complete and accessible resource for studying X-linked mental retardation (XLMR) and related conditions.
    • Improved search functionality facilitates detailed analysis of clinical presentations and genetic associations.
    • This updated resource supports ongoing research into the genetic basis of intellectual disability.