SYNGAP1-related NSID

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report SYNGAP1-related NSID is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Intellectual disability (ID) is a common disorder defined by the presence of significant limitations in both cognitive and adaptive behaviors with onset before the age of 18. ID is subdivided into syndromic intellectual disability, in which intellectual deficits and distinguishing morphologic, radiologic or metabolic features are present, and non-syndromic intellectual disability (NSID), in which intellectual deficits appear without these physical abnormalities. Mutations in the SYNGAP1 gene are thought to be a relatively common cause of NSID. NSID patients, including those associated with SYNGAP1 mutation, typically exhibit moderate to severe ID with varying degrees of epilepsy and/or autism spectrum disorders (ASD) and may also have attention deficits, impulsivity, and/or mood disorders. SYNGAP1-related NSID patients with epilepsy usually respond well to medications, yet some are refractory (difficult to control even with multiple drugs). SYNGAP1-related NSID is a sporadic condition that is caused by de novo (spontaneous, noninherited) mutations. The use of genomic sequencing has dramatically increased the capacity of physicians to identify these mutations.

SYNGAP1-related NSID in humans was first reported in 2009 and is one of the first genes found to be associated with NSID. Since initially described, an increasing number of children with SYNGAP1-related NSID have been identified, suggesting that it may represent one of the most common causes of ID.

Supporting Organizations

Bridge the Gap - SYNGAP Education and Research Foundation

15319 Redbud Berry Way
Cypress, TX 77433
Tel: 832-671-0010

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to and click on Rare Disease Database under "Rare Disease Information".

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Last Updated:  5/28/2015
Copyright  2015 National Organization for Rare Disorders, Inc.