Below is a summary for the CTNNB1 gene observed in research publications. This is not meant to take the place of medical advice.
What is CTNNB1-related syndrome?
CTNNB1-related syndrome happens when there are changes to the CTNNB1 gene. These changes can keep the gene from working as it should.
The CTNNB1 gene plays a key role in the communication that happens between cells and how cells connect to each other.
Many people who have CTNNB1-related syndrome have:
- Intellectual disability
- Speech delay
- Small head
- Low muscle tone
Do people who have CTNNB1-related syndrome look different?
People who have CTNNB1-related syndrome can look a little different from others. Appearance can vary and can include some but not all of these features:
- Thin upper lip
- Wide-spaced teeth
- Large nose
- Fair, thin hair and fair skin
Research Article Summaries