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.

Key Role

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.


Support Resources



GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for  AUTS2 .


Research Article Summaries

We currently do not have any article summaries for AUTS2, but we add resources to our website as they become available.

The information available about AUTS2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for AUTS2 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about AUTS2 genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

We do not currently have any stories from  AUTS2  families.

Click here to share your family’s story!