WDFY3

Below is a summary for the WDFY3 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 WDFY3-related syndrome?

WDFY3-related syndrome happens when there are changes to the WDFY3 gene. These changes can keep the gene from working as it should.

Genetic variants that cause a loss of function in WDFY3 are linked to a larger than average head size and autism, and medical features are usually mild. One genetic variant (missense, p.Gly2558Ser) in the PH-domain of the WDFY3 gene, called missense, p.Gly2558Ser, has been linked to a smaller than average head size.

Key Role

The WDFY3 gene plays a key role in the growth of brain cells.

Symptoms

Because the WDFY3 gene is important in the growth of brain cells, many people who have WDFY3-related syndrome have:

Mild intellectual disability
Developmental delay
Autism spectrum disorder
Speech delay
Attention-deficit/hyperactivity disorder, also called ADHD

Do people who have WDFY3-related syndrome look different?

People with WDFY3-related syndrome may look different. Appearance can vary and can include, but are not limited to, these features:

Larger than average head size, but sometimes a person has a smaller than average head size
Lower than average muscle tone

How many people have WDFY3-related syndrome?

As of 2023, researchers had found about 73 people in the world with a WDFY3 genetic variant. To date, only 24 people with medical details have been described in medical research. The first case of WDFY3-related syndrome was described in 2012.

BEHAVIOR

Some people make repeated movements.

MOTOR CONCERNS

Some have motor delays.

BRAIN

Some people have seizures.

Learn more about WDFY3-related syndrome and connect with other Simons Searchlight families with the resources below.

Support Resources

Simons Searchlight Community – WDFY3 Facebook group
Geisinger Developmental Brain Disorder Gene Database – WDFY3

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 WDFY3.

Research Article Summaries

We currently do not have any article summaries for WDFY3, but we add resources to our website as they become available. The information available about WDFY3 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 WDFY3 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 WDFY3 genetic changes by taking part in our research. You can learn more about the project and sign up here.

Family Stories

Stories from WDFY3 families:

Koby
Josefina

Click here to share your family’s story!