ZNF462
The information for this summary of ZNF462-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full ZNF462 Gene Guide
The online Gene Guide includes more information about ZNF462 such as the chance of having another child with this condition, behavior and development concerns linked to ZNF462-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
ZNF462-related syndrome is also called Weiss-Kruszka syndrome. For this webpage, we will be using the name ZNF462-related syndrome to encompass the wide range of variants observed in the people identified.
What is ZNF462-related Syndrome?
ZNF462-related syndrome happens when there are changes in the ZNF462 gene. These changes can keep the gene from working as it should.
Key Role
The ZNF462 gene plays a key role in the growth of the brain.
Symptoms
Because the ZNF462 gene is important for brain activity, many people who have ZNF462-related syndrome have:
- Developmental delay
- Intellectual disability
- Low muscle tone
- Autism
- Attention-deficit/hyperactivity disorder (ADHD)
- Feeding difficulties
How many people have ZNF462-related syndrome?
As of 2026, about 83 people with ZNF462-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Community – ZNF462 Facebook group
- Geisinger Developmental Brain Disorder Gene Database – ZNF462
GeneReviews
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 ZNF462.
Research Article Summaries
We currently do not have any article summaries for ZNF462, but we add resources to our website as they become available.
The information available about ZNF462 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 ZNF462 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 ZNF462 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
We do not currently have any stories from ZNF462 families.
Click here to share your family’s story!