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.
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:
- Intellectual disability
- Autism spectrum disorder
- Speech delay
Do people who have WDFY3-related syndrome look different?
WDFY3-related syndrome is very rare. We don’t yet know if it affects how people look.
How many people have WDFY3-related syndrome?
As of 2019, doctors had found fewer than 12 people in the world with changes in the WDFY3 gene. The first case of WDFY3-related syndrome was described in 2012. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Some people make repeated movements.
Some have motor delays.
Some people have seizures.
Learn more about WDFY3-related syndrome and connect with other Simons Searchlight families with the resources below.
Research Article Summaries