Below is a summary for the AUTS2 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 AUTS2-related syndrome?
AUTS2-related syndrome happens when there are changes to the AUTS2 gene. These changes can keep the gene from working as it should.
The AUTS2 gene helps the body to develop.
Because the AUTS2 gene is important in development, many people who have AUTS2-related syndrome have:
- Learning problems, developmental delay
- Features of autism
- Motor delays
- Speech delays
Do people who have AUTS2-related syndrome look different?
Most people who have AUTS2-related syndrome don’t look very different from others.
Everyone in one small study had learning problems or developmental delay, or both.
8 out of 13 had mild intellectual disability.
5 out of 13 had moderate intellectual disability.
Many people have some signs of autism spectrum disorder. These signs can include repeated movements and special interests.
80% have signs of autism.
Most people are short.
Research Article Summaries