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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 change in this gene was identified in a female, age 3 with brain abnormalities, flow of urine from bladder to kidneys (vesicoureteral reflux), global developmental delay and atrial septal defect (read full description).
Sep 13, 2019
chromodomain helicase DNA binding protein 2
The CHD2 gene codes for a member of the chromodomain helicase DNA-binding family of proteins. These proteins regulate gene expression through chromatin remodeling (Carvill et al., 2013).
Changes in the CHD2 gene have been found in individuals with childhood-onset epileptic encephalopathy (OMIM).
The following de novo genetic change was also identified in a UDN participant. Since this change is thought to have a different mechanism than the known condition, clinicians and researchers think that this may cause a different disease.
Interested in learning more about this gene or sharing what you know? Contact us!