TLK2
The information for this summary of TLK2-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full TLK2 Gene Guide
The online Gene Guide includes more information about TLK2 such as the chance of having another child with this condition, behavior and development concerns linked to TLK2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
TLK2-related syndrome is also called intellectual developmental disorder, autosomal dominant 57. For this webpage, we will be using the name TLK2-related syndrome to encompass the wide range of variants observed in the people identified.
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What is TLK2-related syndrome?
TLK2-related syndrome happens when there are changes to the TLK2 gene. These changes can keep the gene from working as it should.
Key Role
The TLK2 gene plays a key role in brain growth.
Symptoms
Because the TLK2 gene is important for brain activity, people who have TLK2-related syndrome may have:
- Developmental delay
- Mild to moderate intellectual disability
- Motor delay
- Speech and language delay
- Autism spectrum disorder
- Attention-deficit/hyperactivity disorder (ADHD)
- Obsessive compulsive disorder
- Tantrums
- Anxiety
- Gastrointestinal issues
- Toe walking
- Sideways curve of the spine, also called scoliosis
- Vision issues
How many people have TLK2-related syndrome?
As of 2026, about 103 people with TLK2-related syndrome have been identified in a medical clinic.
Learn more about the TLK2 gene and connect with other Simons Searchlight families with the resources below:
Support Resources
- Simons Searchlight Community – TLK2 Facebook group
- NDD GeneHub – TLK2
- SFARI Gene – TLK2 website
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 is currently no GeneReviews for TLK2.
Research Article Summaries
We currently do not have any article summaries for TLK2, but we add resources to our website as they become available.
The information available about TLK2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our 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 TLK2 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 TLK2 genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.