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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 the ZC4H2 gene was identified in a female, age 10 with developmental delay, joint contractures, seizures, and multiple birth defects (read full description).
Aug 19, 2021
zinc finger C4H2-type containing
ZC4H2 codes for a protein that is thought to be involved in the development of the neural system, and also is involved in regulating the expression level of bone morphogenetic protein (Ma et al., 2017).
A change in this gene was identified in a UDN participant.
The ZC4H2 Research Foundation is dedicated to supporting individuals and families affected by ZC4H2-related conditions.
Interested in learning more about this gene or sharing what you know? Contact us!