16p13.11 Deletion

Below is a summary for the 16p13.11 Deletion observed in research publications. This is not meant to take the place of medical advice.

Click here for our full 16p13.11 Deletion gene guide

The online gene guide includes more information about 16p13.11 deletion such as the chance of having another child with this condition, behavior and development concerns linked to 16p13.11 deletion or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

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What is 16p13.11 deletion syndrome?

16p13.11 deletion syndrome can have moderate to severe effects on communication, social, and learning skills.

Symptoms

People who have 16p13.11 deletion syndrome may have:

Intellectual disability
Autism
Small head size
Seizures

How many people have 16p13.11 deletion syndrome?

As of 2020, doctors had described around 50 people who have 16p13.11 deletion syndrome. The first case was found in 2007. There are likely many more undiagnosed people who have the syndrome. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Support Resources

Simons Searchlight Community – 16p13.11 Deletion Facebook group
Unique – 16p13.11 Deletion Guidebook

GeneReviews

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 16p13.11 Deletions.

Research Article Summaries

We currently do not have any article summaries for 16p13.11 Deletion, but we add resources to our website as they become available.

The information available about 16p13.11 Deletion 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 16p13.11 Deletion articles can be found here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 16p13.11 deletions by taking part in our research. You can learn more about the project and sign up here.