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On this page, you will find information about genetic changes that were identified in UDN participants. 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 male, age 8 with global developmental delay, large head size (macrocephaly), low muscle tone (hypotonia), and seizures. His sister has similar symptoms (read full description).
Jul 10, 2019
family with sequence similarity 177 member A1
Changes in this gene were identified in UDN participants. Research is underway to see if the changes are causing symptoms in these participants.
Interested in learning more about this gene or sharing what you know? Contact us!