PSMD12
The information for this summary of PSMD12-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full PSMD12 Gene Guide
The online Gene Guide includes more information about PSMD12 such as the chance of having another child with this condition, behavior and development concerns linked to PSMD12-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
PSMD12-related syndrome is also called Stankiewicz-Isidor syndrome. For this webpage, we will be using the name PSMD12-related syndrome to encompass the wide range of variants observed in the people identified.
What is PSMD12-related syndrome?
PSMD12-related syndrome happens when there are changes in the PSMD12 gene. These changes can keep the gene from working as it should.
Key Role
The PSMD12 gene plays a role in brain development.
Symptoms
Because the PSMD12 gene is important for brain activity, many people who have PSMD12-related syndrome have:
- Developmental delay
- Intellectual disability
- Autism
- Speech delay
- Seizures
- Heart issues
- Low muscle tone
How many people have PSMD12-related syndrome?
As of 2026, about 52 people with PSMD12-related syndrome have been described in medical research.
Learn more about the PSMD12 gene and connect with other Simons Searchlight families with the resources below:
Support Resources
- Simons Searchlight Community – PSMD12 Facebook group
- Geisinger Developmental Brain Disorder Gene Database – PSMD12
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 PSMD12.
Research Article Summaries
We currently do not have any article summaries for PSMD12, but we add resources to our website as they become available.
The information available about PSMD12 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 PSMD12 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 PSMD12 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 PSMD12 families.
Click here to share your family’s story!