Below is a summary for the RALGAPB gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
Changes in the RALGAPB gene are linked to intellectual disability and autism.
How many people have a de novo gene change in RALGAPB?
As of 2021, about five people in the world with changes in the RALGAPB gene have been described in medical research.
The first case of this condition was described in 2013. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Do people who have de novo changes in the RALGAPB gene look different?
We do not yet know if people who have de novo changes in the RALGAPB gene look consistently different from others.
Learn more about the RALGAPB gene and connect with other Simons Searchlight families with the resources below:
Research Article Summaries