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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 de novo change in the MAMDC4 gene was identified in a UDN participant with behavioral disorders, congenital heart defects, and a brain malformation.
Jun 05, 2023
Zinc Finger Protein 169
The function of ZNF169 is not well described. It is believed to be involved in enabling DNA-binding transcription repressor activity and negative regulation of transcription by RNA polymerase II (Alliance of Genome Resources, 2022).
A de novo heterozygous 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!