KMT2A

Below is a summary for the KMT2A gene observed in research publications. This is not meant to take the place of medical advice.

What is KMT2A-related syndrome?

KMT2A-related syndrome happens when there are changes to the KMT2A gene. These changes can keep the gene from working as it should. KMT2A-related syndrome is also known as Wiedemann-Steiner syndrome.

Key Role

The KMT2A gene plays a key role in how the brain and body develop.

Symptoms

Because the KMT2A gene is important in the development of the brain and the body, many people who have KMT2A-related syndrome have:

  • Developmental delay
  • Difficulty eating
  • Slow growth
  • Short height
  • Extra hair growth on the body

Do people who have KMT2A-related syndrome look different?

People who have KMT2A-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Droopy eyelids
  • Thick eyebrows
  • Long eyelashes
  • Wide-set eyes
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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 KMT2A.

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Research Article Summaries

We currently do not have any article summaries for KMT2A, but we add resources to our website as they become available.

The information available about KMT2A 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 KMT2A 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 KMT2A genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

We do not currently have any stories from KMT2A families.

Click here to share your family’s story!