Below is a summary for the DLG4 gene observed in research publications. This is not meant to take the place of medical advice.

What is DLG4-related syndrome?

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

Key Role

The DLG4 gene plays a key role in communication among brain cells.


Many people who have DLG4-related syndrome have:

  • Intellectual disability
  • Skeletal changes
  • Changes in the eye

Do people who have DLG4-related syndrome look different?

People who have DLG4-related syndrome can look different. Appearance can vary and can include some but not all of these features:

  • Long face
  • High-arched roof of the mouth
  • Slender body type
  • Long thin fingers
  • Sunken or caved chest

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 DLG4.


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.


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.


Family Stories

We do not currently have any stories from DLG4 families.

Click here to share your family’s story!