16p12.2 Deletion

Below is a summary for the 16p12.2 Deletion observed in research publications. This is not meant to take the place of medical advice.

What is 16p12.2 deletion syndrome?

16p12.2 deletion syndrome can affect communication, social, and learning skills.


People who have 16p12.2 deletion syndrome may have:

  • Developmental delay
  • Intellectual disability
  • Slow growth
  • Behavior issues
  • Seizures

Do people who have 16p12.2 deletion syndrome look different?

People who have 16p12.2 deletion syndrome may look a bit different. Appearance can vary and can include some but not all of these features:

  • Small head, also called microcephaly
  • Wide, flat forehead
  • Widely spaced eyes

Behavior and development concerns linked to 16p12.2 deletion syndrome:

  • Learning: 78 percent of people who have 16p12.2 deletion syndrome have intellectual disability.
  • Speech: 75 percent have speech delay.
  • Behavior: 46 percent have autism.

Support Resources



GenesReviews 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.

Check out the GeneReviews for 16p12.2 Deletions.


Research Article Summaries

We currently do not have any article summaries for 16p12.2 Deletion, but we add resources to our website as they become available.

The information available about 16p12.2 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 16p12.2 Deletion 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 16p12.2 Deletion genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

Stories from 16p12.2 Deletion families:

Click here to share your family’s story!