15q15 Deletion
Below is a summary of 15q15 deletion syndrome observed in research publications. This is not meant to take the place of medical advice.
Click here for our full 15q15 Deletion Gene Guide
The online Gene Guide includes more information about 15q15 deletion such as the chance of having another child with this condition, behavior and development concerns linked to 15q15 deletion or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is 15q15 deletion syndrome?
15q15 deletion syndrome happens when a person is missing a piece of chromosome 15, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The missing piece can affect learning and how the body develops.
Key Role
Genes within the 15q15 region are important for brain development and function.
Symptoms
Because the 15q15 region is important for the proper function of the brain, some people may have:
- Intellectual disability
- Developmental delay
- Low muscle tone
- Gastrointestinal reflux and feeding issues
- Sideways curve of the spine, also called scoliosis
- Brain changes seen on magnetic resonance imaging (MRI)
- Minor genital defects
- Vision issues
- Speech difficulties
- Learning difficulties
How many people have 15q15 deletion syndrome?
As of 2025, about 10 people with 15q15 deletion syndrome have been identified in medical research.
Support Resources
- Simons Searchlight Community – 15q15 Deletion Facebook group
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 15q15 Deletion.
Research Article Summaries
We currently do not have any article summaries for 15q15 Deletion, but we add resources to our website as they become available.
The information available about 15q15 Deletion is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our 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 15q15 Deletion articles can be found here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about 15q15 Deletion 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 15q15 Deletion families.
Click here to share your family’s story!