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.
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.
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.
Research Article Summaries