Learn more about TLK2 and connect with other Simons Searchlight families with the resources below. 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.

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.


Because the TLK2 gene is important in the development and function of brain cells, many people who have TLK2-related syndrome have:

  • Developmental delay
  • Behavior issues
  • Gastrointestinal issues

How many people have TLK2-related syndrome?

As of 2020, about 40 people in the world with changes in the TLK2 gene had been described in the medical literature. The first case of TLK2related syndrome was described in 2016. Scientists expect to find more people who have the syndrome as access to genetic testing improves.


Support Resources



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.


Family Stories

Stories from TLK2 families:

Click here to share your family’s story!