TCF20

Below is a summary for the TCF20 gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our TCF20 Gene Guide

The online Gene Guide includes more information about TCF20 such as the chance of having another child with this condition, behavior and development concerns linked to TCF20-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is TCF20-related Syndrome?

TCF20-related syndrome happens when there are changes in the TCF20 gene. These changes can keep the gene from working as it should.

Key Role

The TCF20 gene plays a key role in the development of brain cells. It also controls other genes that help guide brain development.

Symptoms

Because the TCF20 gene is important for brain activity, many people who have TCF20-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Autism spectrum disorder or features of autism
  • Low muscle tone, also called hypotonia
  • High muscle tone, also called hypertonia
  • Seizures
  • Language issues
  • Vision or eye issues
  • Heart issues
  • Behavioral issues, including attention-deficit/hyperactivity disorder (ADHD), anxiety, depression, aggression, sensory issues, obsessive compulsive disorder
  • Genitourinary defects
  • Gastrointestinal issues
  • Skeletal issues
  • Skin issues
  • Overgrowth issues, including a larger than average head size, also called macrocephaly
  • Sleep issues
  • Movement issues
  • Brain changes seen on magnetic resonance imaging (MRI)

How many people have TCF20-related syndrome?

As of 2025, over 110 people with TCF20-related syndrome have been identified in a medical clinic.

Learn more about the TCF20 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 TCF20.

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Research Article Summaries

We currently do not have any article summaries for TCF20, but we add resources to our website as they become available.

The information available about TCF20 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 TCF20 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 TCF20 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 TCF20 families.

Click here to share your family’s story!