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The information for this summary of VAMP2-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full VAMP2 Gene Guide
The online Gene Guide includes more information about VAMP2 such as the chance of having another child with this condition, behavior and development concerns linked to VAMP2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
VAMP2-related syndrome is also called neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements. For this webpage, we will be using the name VAMP2-related syndrome to encompass the wide range of variants observed in the people identified.
What is VAMP2-related syndrome?
VAMP2-related syndrome happens when there are changes in the VAMP2 gene. These changes can keep the gene from working as it should.
Key Role
The VAMP2 gene plays a role in cell communication in the brain.
Symptoms
Because the VAMP2 gene is important in brain development and function, many people who have VAMP2-related syndrome have:
- Developmental delay
- Intellectual disability
- Delayed speech or are non-verbal
- Delayed sitting and walking
- Shaky movement or walking
- Autism
How many people have VAMP2-related syndrome?
As of 2024, at least 12 people with VAMP2-related syndrome have been identified in medical research.
Learn more about the VAMP2 gene and connect with other Simons Searchlight families with the resources below:
Support Resources GeneReviews GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care. There are currently no GeneReviews for VAMP2. Research Articles and References Below, we have summarized research articles about changes in the VAMP2 gene. We hope you find this information helpful. The information available about VAMP2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow. Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for VAMP2 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene. Research Opportunities Simons Searchlight Help the Simons Searchlight team learn more about VAMP2 genetic changes by taking part in our research. You can learn more about the project and sign up here. Family Stories We do not currently have any stories from VAMP2 families. Click here to share your family’s story!