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On this page, you will find information about genetic changes that were 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.
Changes in this gene were identified in a female, age 18 with seizures, severe intellectual disability, regression, and abnormal brain findings (read full description).
Mar 25, 2019
SEC24 homolog C, COPII coat complex component
The SEC24C gene codes for a component of the coat protein II-coated complex, which promotes the formation of transport vesicles from the endoplasmic reticulum (OMIM).
Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!