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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 mosaic change in the CHD5 gene was identified in a female, age 4 with seizures, global developmental delay, and optic nerve hypoplasia (read full description).
Feb 07, 2019
chromodomain helicase DNA binding protein 5
The CHD5 gene codes for a protein important in chromatin remodeling, specifically in the nervous system (Thompson, et al., 2003)
A mosaic change in this gene was identified in a UDN participant. Research is underway to see if this de novo change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!