The information for this summary of JARID2-related syndrome comes from research publications. This is not meant to take the place of medical advice. 

Click here for our full JARID2 Gene Guide

The online Gene Guide includes more information about JARID2 such as the chance of having another child with this condition, behavior and development concerns linked to JARID2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is JARID2-related syndrome? 


JARID2-related syndrome happens when there are changes in the JARID2 gene. These changes can keep the gene from working as it should. 

Key Role 

The JARID2 gene plays an important role in human development. 


Because the JARID2 gene is important for many parts of the body, some people may have: 

  • Intellectual disability 
  • Learning issues 
  • Developmental delay 
  • Autism or features of autism 
  • Behavior issues 
  • Speech issues 

How many people have JARID2-related syndrome?

As of 2024, over 30 people in the world with JARID2-related syndrome have been described in medical research. 


Support Resources

Simons Searchlight Facebook group- https://www.facebook.com/groups/370944638965135



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.


Research Article Summaries

Below, we have summarized research articles about changes in the JARID2 gene. We hope you find this information helpful.

The information available about JARID2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 JARID2 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 CHD2 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 JARID2 families.

Click here to share your family’s story!


Sources and References

  • Cadieux-Dion M, Farrow E, Thiffault I, et al. Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series. Clin Genet. 2022;102(2):136-141. doi:10.1111/cge.14149 
  • van der Laan L, Rooney K, Haghshenas S, et al. Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature. Int J Mol Sci. 2023;24(18):14240. Published 2023 Sep 18. doi:10.3390/ijms241814240 
  • Verberne EA, van der Laan L, Haghshenas S, et al. DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome. Int J Mol Sci. 2022;23(14):8001. Published 2022 Jul 20. doi:10.3390/ijms23148001 
  • Verberne EA, Goh S, England J, et al. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. Genet Med. 2021;23(2):374-383. doi:10.1038/s41436-020-00992-z