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 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 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

Do people who have 16p13.11 deletion syndrome look different?

People who have 16p13.11 deletion syndrome do not look very different.

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.

Do all people who have 16p13.11 deletion syndrome have symptoms?

Not necessarily. Some people do not have any symptoms. Some people may not learn that they have this genetic change until it is found in their children.

LEARNING

Learning problems are common in people who have 16p13.11 deletion syndrome. Combined results from different studies suggest that about 70 percent, or 23/32 people, have an intellectual disability.

SPEECH

Language delay and speech impairment are common.

BEHAVIOR

Some people who have 16p13.11 deletion syndrome have autism, obsessive compulsive disorder, or Tourette’s syndrome, a disorder with involuntary tics and repeated sounds.

BRAIN

Seizures are common in people who have 16p13.11 deletion syndrome. Some people have a small head size.

EYESIGHT

Eyesight issues are common, including crossed eyes.

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.

Family Stories

We do not currently have any stories from 16p13.11 Deletion families.

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