SYNGAP1

Overview

What is SYNGAP1?

SYNGAP1 is a genetic cause of intellectual disability (moderate to severe), seizures, and autism. People living with SYNGAP1 may also have issues with mood disorders, impulsive behavior, and attention deficits. They tend to have these neurological issues without also having birth defects (non-syndromic intellectual disabilty). SYNGAP1 is caused by changes or mutations in the SYNGAP1 gene. Most often the SYNGAP1 gene changes in an person living with SYNGAP1 happened for the first time in that person and are not passed down from a parent.

A genetic professional such as a medical geneticist and/or genetic counselor can provide more information about SYNGAP1, testing, and treatment options. To find a genetic counselor in an specific area, use the NSGC find a genetic counselor webpage.

Excellent information on SYNGAP1 can also be found on the NORD rare disease entry on NORD SYNGAP1 webpage as well as the main SYNGAP1 support group website: Bridge the Gap: Syngap Educational and Research Foundation.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/612621-mental-retardation-autosomal-dominant-5-7559/overview/48627 • DATE UPDATED: 2016-09-26

References

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