If any of these participants sound like you or someone you know, please contact us!Contact Us
On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a male, age 12, with developmental regression, absent speech, seizures, and distinct facial features (read full description).
Jun 12, 2018
G3BP stress granule assembly factor 1
The G3BP1 gene codes for an enzyme involved in unwinding DNA (Costa et al., 1999).
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!