ZNF462

Below is a summary for the ZNF462 gene observed in research publications. This is not meant to take the place of medical advice.

What is ZNF462-related Syndrome?

ZNF462-related syndrome happens when there are changes to the ZNF462 gene. These changes can keep the gene from working as it should.

ZNF462-related syndrome is also called Weiss-Kruszka syndrome.

Key Role

The ZNF462 gene plays a key role in the growth of the brain.

Symptoms

Many people who have ZNF462-related syndrome have:

  • Developmental delay
  • Differences in facial features

Do people who have ZNF462-related syndrome look different?

People who have ZNF462-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Forehead: There may be a noticeable ridge at the center of the forehead, and the front of the head may appear pointed and triangular.
  • Eyes: Drooping upper eyelids, arched eyebrows that meet in the center of the forehead.
  • Nose: Small and upturned, with a round tip.
  • Mouth: Thin upper lip.
  • Ears: Uneven or large.

Learn more about the ZNF462 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

 

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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.

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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.

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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.

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Family Stories

We do not currently have any stories from ZNF462 families.

Click here to share your family’s story!