Below is a summary for the WDFY3 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about WDFY3-related syndrome such as the chance of having another child with this condition, behavior and development concerns linked to WDFY3-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
This latest report includes updated information about Simons Searchlight participants with WDFY3-related syndrome using insights by families like yours. This report features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).
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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.
The WDFY3 gene plays a key role in the growth of brain cells.
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
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.
Learn more about WDFY3-related syndrome and connect with other Simons Searchlight families with the resources below.
Research Article Summaries