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Genetic and Rare Diseases Information Center (GARD)

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Lubs X-linked mental retardation syndrome


Other Names for this Disease

  • MECP2 duplication syndrome
  • Mental retardation, X-linked, Lubs type
  • MRXSL
  • XLMR syndrome, Lubs type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Lubs X-linked mental retardation is a genetic condition first described in 1999 by Lubs et al. The condition  is associated with severe mental retardation, infantile hypotonia (low muscle tone), recurrent respiratory infection, absence of speech development, progressive neurological problems (such as seizures and spasticity), and mild facial abnormalities. [1]
Last updated: 12/5/2008

References

  1. Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Blaymore Bier J, et al. Pediatrics. 6 December 2006; http://pediatrics.aappublications.org/cgi/content/full/118/6/e1687. Accessed 6/16/2008.
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Basic Information

  • The National Center on Birth Defects and Developmental Disabilities (NCBDDD) at the Center for Disease Control and Prevention (CDC) provides information about developmental disabilities, including mental retardation.  To view this information, click on the link below.
    Link: http://www.cdc.gov/ncbddd/dd/ddmr.htm
  • Genetics Home Reference (GHR) contains information on Lubs X-linked mental retardation syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lubs X-linked mental retardation syndrome. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • MECP2 duplication syndrome
  • Mental retardation, X-linked, Lubs type
  • MRXSL
  • XLMR syndrome, Lubs type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.