If any of these participants sound like you or someone you know, please contact us!Contact Us
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 facial differences, heart abnormalities (hypoplastic left heart syndrome, mitral regurgitation, aortic insufficiency), kidney abnormalities (vesicoureteral reflux, hydronephrosis, medullary nephrocalcinosis), and global developmental delay (read full description).
Oct 28, 2019
ankyrin repeat domain 44
A 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!