BCL11A
The information for this summary of BCL11A-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full BCL11A Gene Guide
The online Gene Guide includes more information about BCL11A such as the chance of having another child with this condition, behavior and development concerns linked to BCL11A-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
BCL11A-related syndrome is also called Dias-Logan syndrome or intellectual developmental disorder with persistence of fetal hemoglobin. For this webpage, we will be using the name BCL11A-related syndrome to encompass the wide range of variants observed in the people identified. People who have a related syndrome called 2p15p16.1 deletion syndrome have a genetic change that can affect several genes, including the BCL11A gene.
What is BCL11A-related syndrome?
BCL11A-related syndrome happens when there are changes in the BCL11A gene. These changes can keep the gene from working as it should.
Key Role
The BCL11A gene plays a key role in the basic functioning of the cell.
Symptoms
Because the BCL11A gene is important for brain activity, many people who have BCL11A-related syndrome have:
- Developmental delay
- Intellectual disability
- Speech delay
- Low muscle tone
- Small head
- Sleep issues
- Seizures
- Autism
- Vision and ear defects
- Feeding challenges
How many people have BCL11A-related syndrome?
As of 2026, about 77 people with BCL11A-related syndrome have been described in medical research.
Learn more about the BCL11A and connect with other Simons Searchlight families with the resources below.
Support Resources
- Simons Searchlight Community – BCL11A Facebook group
- Geisinger Developmental Brain Disorder Gene Database – BCL11A
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. Check out the GeneReviews for BCL11A-related intellectual disability.
Research Article Summaries
Below, we have summarized research articles about changes in the BCL11A gene. We hope you find this information helpful.
The information available about BCLL1A 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 BCLL1A articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations
Original research article by A. Basak et al. (2015).
Read the article here and the Simons Searchlight summary here.
Brain malformations in a patient with a deletion 2p16.1: A refinement of the phenotype to BCL11A
Original research article by T. Balci et al. (2015).
Read the abstract here and the Simons Searchlight summary here.
De novo microdeletion of BCL11A is associated with severe speech sound disorder
Original research article by B. Peter et al. (2014).
Read the abstract here or the Simons Searchlight summary here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about BCL11A 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
Stories from BCL11A families:
Click here to share your family’s story!