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DLG4

The information for this summary of DLG4-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full DLG4 Gene Guide

The online Gene Guide includes more information about DLG4 such as the chance of having another child with this condition, behavior and development concerns linked to DLG4-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

DLG4-related syndrome is also called sleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy (SHINE) syndrome, DLG4 synaptopathy, or intellectual developmental disorder, autosomal dominant 62. For this webpage, we will be using the name DLG4-related syndrome to encompass the wide range of variants observed in the people identified.

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The latest Simons Searchlight report includes updated information on your genetic community. It showcases the power of your contributions and how this data advances research.

If you are not yet registered, consider joining Simons Searchlight to be included in future reports!

View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.

What is DLG4-related syndrome?

DLG4-related syndrome happens when there are changes in the DLG4 gene. These changes can keep the gene from working as it should.

Key Role

The DLG4 gene contains the instructions for making a protein called PSD-95. The PSD-95 protein plays a key role in communication between brain cells. This communication happens in the spaces between brain cells called synapses.

Symptoms

Because the DLG4 gene is important for brain activity, many people who have DLG4-related syndrome have:

  • Developmental delays in early childhood
  • Intellectual disability
  • Seizures
  • Autism spectrum disorder
  • Behavioral issues
  • Eye and vision issues
  • Low muscle tone
  • Sleep challenges
  • Brain changes seen on magnetic resonance imaging (MRI)

How many people have DLG4-related syndrome?

As of 2026, about 134 people with DLG4-related syndrome have been identified in a medical clinic.

Learn more about the DLG4 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

  • HOPE for Harvey Foundation
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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.

Check out the GeneReviews for DLG4.

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Research Article Summaries

We currently do not have any article summaries for DLG4, but we add resources to our website as they become available. The information available about DLG4 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 DLG4 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Below is a summary for the DLG4 gene observed in the following research publication:

  • Rodríguez-Palmero, A., Boerrigter, M.M., Gómez-Andrés, D. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888–899 (2021). [Nature] [02/2021].
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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about DLG4 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 DLG4 families. Click here to share your family’s story!

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Previous Quarterly Reports