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 ATAD3C gene was identified in a male, who passed away at 19 months, with poor growth, a small head (severe progressive microcephaly), global developmental delay, vision and hearing impairment, autoimmune disease, and brain abnormalities (read full description).
Mar 16, 2022
ATPase Family AAA Domain Containing 3C
The ATAD3C gene encodes for a protein whose function is currently not well understood (GeneCards).
A partial de novo duplication in this gene was identified in a UDN participant. The duplication involves the ATAD3A, ATAD3B, and ATAD3C genes.
Interested in learning more about this gene or sharing what you know? Contact us!