MYT1L

The information for this summary of MYT1L-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full MYT1L Gene Guide

The online Gene Guide includes more information about MYT1L such as the chance of having another child with this condition, behavior and development concerns linked to MYT1L-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

MYT1L-related syndrome is also called intellectual developmental disorder, autosomal dominant 39. For this webpage, we will be using the name MYT1L-related syndrome to encompass the wide range of variants observed in the people identified.

What is MYT1L-related syndrome?

MYT1L-related syndrome happens when there are changes to the MYT1L gene. These changes can keep the gene from working as it should.

Key Role

The MYT1L gene plays a key role in the development of the brain.

Symptoms

Because the MYT1L gene is important for brain activity, many people who have MYT1L-related syndrome have:

  • Motor and speech delay
  • Mild to moderate intellectual disability
  • Excessive hunger and obesity that begins early in life
  • Behavioral challenges, including hyperactivity, autism spectrum disorder, and aggression
  • Lower than average muscle tone

How many people have MYT1L-related syndrome?

As of 2024, at least 88 people with MYT1L-related syndrome have been identified in a medical clinic. The first case of MYT1L-related syndrome was described in 2015. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Learn more about the MYT1L 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 MYT1L.

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Research Article Summaries

We currently do not have any article summaries for MYT1L, but we add resources to our website as they become available.

The information available about MYT1L 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 MYT1L 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 MYT1L 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 MYT1L families.

Click here to share your family’s story!