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Genetic and Rare Diseases Information Center (GARD)

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Snyder-Robinson syndrome


Other Names for this Disease

  • SRS
  • X-linked mental retardation Snyder-Robinson 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

Snyder-Robinson syndrome is an inherited condition that is characterized by moderate intellectual disability, hypotonia, difficulty walking, osteoporosis, kyphoscoliosis, and facial asymmetry. It has been described in 11 males. This condition is caused by mutations in the SMS gene and is inherited in an X-linked recessive fashion.[1]
Last updated: 12/9/2011

References

  1. Intellectual deficit, X-linked, Snyder type. Orphanet. October 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3063. Accessed 12/9/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Snyder-Robinson syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference contains information on Snyder-Robinson syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a 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 Snyder-Robinson syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • SRS
  • X-linked mental retardation Snyder-Robinson 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.