Below is a summary for the TAOK1 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
What is TAOK1-related Syndrome?
TAOK1-related syndrome happens when there are changes to the TAOK1 gene. These changes can keep the gene from working as it should.
The TAOK1 gene plays a key role in brain development.
Because the TAOK1 gene is important in the development and function of brain cells, many people who have TAOK1-related syndrome have:
- Developmental delay
- Speech and language delay
- Low muscle tone
- Motor delays
- Intellectual disability
Do people who have TAOK1-related syndrome look different?
People who have TAOK1-related syndrome may look different. Some people may have a large head and a high forehead.
Research Article Summaries