Below is a summary for the TAOK1 gene observed in research publications. This is not meant to take the place of medical advice.
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