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 the SAP30L gene was identified in a female, age 14, with severe epileptic encephalopathy, global developmental delay, and a clumsy, broad-based gait (read full description).
Sep 01, 2020
Sin3A-associated protein 30-like
A de novo 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!