Below is a summary for the SMARCC2 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about SMARCC2 such as the chance of having another child with this condition, behavior and development concerns linked to SMARCC2 -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is SMARCC2 -related syndrome?
SMARCC2 -related syndrome happens when there are changes to the SMARCC2 gene. These changes can keep the gene from working as it should.
SMARCC2 -related syndrome is similar to other syndromes that are caused by related genetic pathways:
- Coffin-Siris syndrome, which is caused by changes in the genes ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, and SMARCE1.
- Nicolaides-Baraitser syndrome, which is caused by changes in the gene SMARCA2.
SMARCC2 plays a key role in how the brain and body develop.
Many people who have SMARCC2 -related syndrome have:
- Developmental delay and intellectual disability
- Speech challenges that may be severe
- Low muscle tone
- Feeding difficulties
- Behavioral concerns, such as autism
- Differences in physical appearance
Learn more about the SMARCC2 gene and connect with other Simons Searchlight families with the resources below:
Research Article Summaries