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.
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
Research Article Summaries