Below is a summary for the SOX5 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about SOX5 such as the chance of having another child with this condition, behavior and development concerns linked to SOX5 -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is Lamb-Shaffer Syndrome?
Lamb-Shaffer Syndrome happens when there are changes to the SOX5 gene. These changes can keep the gene from working as it should.
The SOX5 gene plays a key role in brain development.
Because the SOX5 gene is important in the development and function of brain cells, many people who have Lamb-Shaffer Syndrome have:
- Speech delay
- Behavior issues
- Low muscle tone
- Motor delay
- Developmental delay
- Vision issues
Research Article Summaries