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:
Research Article Summaries