Below is a summary for the SLC6A1 gene observed in research publications. This is not meant to take the place of medical advice.
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What is SLC6A1-related syndrome?
SLC6A1-related syndrome happens when there are changes to the SLC6A1 gene. These changes can keep the gene from working as it should.
The SLC6A1 gene plays a key role in communication between brain cells.
Because the SLC6A1 gene is important in the development and function of brain cells, many people who have SLC6A1-related syndrome have:
- Intellectual disability
- Speech delay
- Behavior issues, including attention deficit hyperactivity disorder, aggression, and features of autism
Do people who have SLC6A1-related syndrome look different?
People who have SLC6A1-related syndrome do not look different.
Research Article Summaries
Previous Registry Reports