Below is a summary for the MYT1L  gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

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.


MYT1L -related syndrome can affect the development of communication skills, social skills, and learning skills. Because MYT1L is important in the development of the brain, 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
  • Behavior problems, including hyperactivity and autism spectrum disorder

Do people who have MYT1L -related syndrome look different?

People who have MYT1L -related syndrome generally don’t look very different. Appearance can vary and can include some but not all of these features:

  • Long chin
  • Nose that has a broad base and tip
  • Large mouth
  • Narrow eyes
  • Square-shaped trunk

Many people have speech and language delays.


In a study of 10 people with MYT1L -related syndrome, 4 had autism.


All people who have MYT1L -related syndrome show some degree of intellectual disability.


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 is currently no GeneReviews for MYT1L .


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.


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.


Family Stories

We do not currently have any stories from  MYT1L  families.

Click here to share your family’s story!