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 • • DATE UPDATED: 2016-10-18


Contact a ThinkGenetic Counselor

Do you have additional questions that haven't been answered? Ask a ThinkGenetic Counselor — a real expert in the field of genetics. Just fill out this form to send an email. We will be in touch within 48 hours.

Please sign me up for your mailing list.

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me

Welcome to the ThinkGenetic beta. More content is added weekly so come back and check often. Please provide your feedback by filling out a contact us form.