FOXP2
The information for this summary of FOXP2-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full FOXP2 Gene Guide
The online Gene Guide includes more information about FOXP2 such as the chance of having another child with this condition, behavior and development concerns linked to FOXP2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
FOXP2-related syndrome is also called speech-language disorder 1 (SPCH1). For this webpage, we will be using the name FOXP2-related syndrome to encompass the wide range of variants observed in the people identified.
What is FOXP2-related syndrome?
FOXP2-related syndrome happens when there are changes in the FOXP2 gene. These changes can keep the gene from working as it should.
Key Role
The FOXP2 gene plays a key role in controlling other genes in the brain.
Symptoms
Because the FOXP2 gene is important for brain activity, many people who have FOXP2-related syndrome have:
- Developmental delay
- Learning difficulties
- Autism spectrum disorder or features of autism
- Speech impairment, such as childhood apraxia of speech
- Sleep challenges
- Anxiety
- Depression
How many people have FOXP2-related syndrome?
As of 2026, about 66 people with FOXP2-related syndrome have been identified in a medical clinic.
Support Resources
- NDD GeneHub – FOXP2
- SFARI Gene – FOXP2 website
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.
Click here for the FOXP2 GeneReviews.
Research Opportunities
Simons Searchlight Help the Simons Searchlight team learn more about FOXP2 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
We do not currently have any stories from FOXP2 families.
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