SYNGAP1

Symptoms

What health issues are there in SYNGAP1?

The symptoms or health issues most often seen in SYNGAP1 are intellectual disability (formerly called mental retardation), seizures (epilepsy), and autism spectrum disorder (ASD). People living with SYNGAP1 may also have issues with mood disorders, impulsive behavior, and attention deficits. People living with SYNGAP1 do NOT usually have physical birth defects or unusual facial features.

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/symptoms/48633 • DATE UPDATED: 2016-10-18

References

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