Below is a summary for the SYNGAP1 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as the chance of having another child with this condition, or specialists to consider for people with this condition.
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What is SYNGAP1-related Syndrome?
SYNGAP1-related syndrome happens when there are changes to the SYNGAP1 gene. These changes can keep the gene from working as it should.
The SYNGAP1 gene plays a key role in the development and function of the brain. It makes a protein that helps to control brain activity. When one copy of the SYNGAP1 gene is not working properly, the brain may become overactive.
Because the SYNGAP1 gene controls brain activity, changes in this gene can be linked to seizures and other challenges. SYNGAP1-related syndrome can affect the development of communication, social, and learning skills. Many people who have SYNGAP1-related syndrome have:
- Developmental delay, or intellectual disability, or both
- Hyperactivity and sleep problems
- Autism or features of autism
- Joint and spine issues
- Low muscle tone
Do people who have SYNGAP1- syndrome look different?
People who have SYNGAP1-related syndrome do not look very different. Appearance can vary and can include some but not all of these features:
- Broad nasal bridge
- Long nose
- Full lower lip
Almost all children who have SYNGAP1-related syndrome have speech delay. Children are often late to start talking, and may have limited vocabulary.
FEEDING and DIGESTION ISSUES
5 out of 10 had constipation.
BRAIN and MUSCLE TONE
Low muscle tone, also called hypotonia, can cause delays in developmental milestones, such as sitting and walking, as well as a wide-based or unsteady walk. 8 out of 10 had low muscle tone. 7 out of 10 had epilepsy.
Research Article Summaries
Previous Registry Reports