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On this page, you will find information about genetic changes that were 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.
Changes in this gene were identified in a female, age 6 with developmental delay, problems with coordination (ataxia), difficulty speaking (dysarthria), and tremor (read full description).
Oct 08, 2019
ANK3 codes for an ankyrin, which is a type of protein believed to link membrane proteins to the cytoskeleton and play key roles in cell motility, activation, proliferation, contact, and maintenance of specialized membrane areas (Mohler, Gramolini, & Vann Bennett, 2002).
Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!