FBXO11
The information for this summary of FBXO11-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full FBXO11 Gene Guide
The online Gene Guide includes more information about FBXO11 such as the chance of having another child with this condition, behavior and development concerns linked to FBXO11-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
FBXO11-related syndrome is also called intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA). For this webpage, we will be using the name FBXO11-related syndrome to encompass the wide range of variants observed in the people identified.
What is FBXO11-related syndrome?
FBXO11-related syndrome happens when there are changes in the FBXO11 gene. These changes can keep the gene from working as it should.
Key Role
The FBXO11 gene plays a role in cell cycle control.
Symptoms
Because the FBXO11 gene is important in brain development and function, many people who have FBXO11-related syndrome have:
- Developmental delay
- Intellectual disability
- Delayed speech and walking
- Features of autism
- Seizures
- Smaller than average head size
- Low muscle tone
How many people have FBXo11-related syndrome?
As of 2024, at least 84 people with FBXO11-related syndrome have been identified in a medical clinic.
Learn more about the FBXO11 gene and connect with other Simons Searchlight families with the resources below:
Support Resources 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 FBXO11. Research Article Summaries Below, we have summarized research articles about changes in the FBXO11 gene. We hope you find this information helpful. The information available about FBXO11 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 FBXO11 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 FBXO11 genetic changes by taking part in our research. You can learn more about the project and sign up here. Family Stories We do not currently have any stories from FBXO11 families. Click here to share your family’s story!