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The information for this summary of YWHAG-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full YWHAG Gene Guide
The online Gene Guide includes more information about YWHAG such as the chance of having another child with this condition, behavior and development concerns linked to YWHAG-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
YWHAG-related syndrome is also called developmental and epileptic encephalopathy 56. For this webpage, we will be using the name YWHAG-related syndrome to encompass the wide range of variants observed in the people identified.
What is YWHAG-related syndrome?
YWHAG-related syndrome happens when there are changes in the YWHAG gene. These changes can keep the gene from working as it should.
Key Role
The YWHAG gene plays a role in cell communication.
Symptoms
Because the YWHAG gene is important in brain development and function, many people who have YWHAG-related syndrome have:
- Developmental delay
- Intellectual disability
- Delayed speech
- Poor coordination and wide-based walking
- Autistic features
- Seizures
- Anxiety
- Obsessive-compulsive habits
How many people have YWHAG-related syndrome?
As of 2024, 48 people with YWHAG-related syndrome have been described in medical research. The oldest person included was 67 years old.
Learn more about the YWHAG 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 YWHAG. Research Articles and References Below, we have summarized research articles about changes in the YWHAG gene. We hope you find this information helpful. The information available about YWHAG 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 YWHAG 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 YWHAG 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 YWHAG families. Click here to share your family’s story!