Below is a summary for the ZNF292 gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full ZNF292 Gene Guide.

The online Gene Guide includes more information about ZNF292 such as the chance of having another child with this condition, behavior and development concerns linked to ZNF292-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is ZNF292-related syndrome?

ZNF292-related syndrome happens when there are changes to the ZNF292 gene. These changes can keep the gene from working as it should.

Key Role

The ZNF292 gene plays a key role in brain growth.


Because the ZNF292 gene is important in the development and function of brain cells, people who have ZNF292-related syndrome have:

  • Intellectual disability
  • Speech delay
  • Autism
  • Brain changes observed on magnetic resonance imaging (MRI)
  • Attention deficit hyperactivity disorder, or ADHD
  • Epilepsy
  • Poor feeding and constipation
  • Failure to thrive

How many people have ZNF292-related syndrome?

As of 2024, at least 80 people with ZNF292-related syndrome have been identified in a medical clinic. The first case of ZNF292-related syndrome was described in 2019. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Learn more about ZNF292-related syndrome and connect with other Simons Searchlight families with the resources below:


Support Resources



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 are currently no GeneReviews for  ZNF292.

Research Article Summaries

We currently do not have any article summaries for ZNF292, but we add resources to our website as they become available. The information available about ZNF292 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 ZNF292 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 Article Summaries: 

  • Mirzaa GM. et al. Genetics in Medicine, 22, 538-546, (2020). De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder, www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121/.



Research Opportunities

Simons Searchlight

Help the Simons Searchlight  team learn more about ZNF292 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

Stories from ZNF292  families.

Click here to share your family’s story!