Below is a summary for the PSMD12 gene observed in research publications. This is not meant to take the place of medical advice.
What is PSMD12-related syndrome?
PSMD12-related syndrome happens when there are changes to the PSMD12 gene. These changes can keep the gene from working as it should.
PSMD12-related syndrome is also called Stankiewicz-Isidor syndrome.
The PSMD12 gene plays a key role in brain development.
Because the PSMD12 gene is important in the development and function of brain cells, many people who have PSMD12-related syndrome have:
- Intellectual disability
Do people who have PSMD12-related syndrome look different?
People who have PSMD12-related syndrome do not look different.
Learn more about the PSMD12 gene and connect with other Simons Searchlight families with the resources below:
- Simons Searchlight Community – PSMD12 Facebook group
- Geisinger Developmental Brain Disorder Gene Database – PSMD12
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.
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.
We do not currently have any stories from PSMD12 families.
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