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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 7 with respiratory failure, feeding difficulties and global developmental delay (read full description).
Oct 22, 2019
polypeptide N-acetylgalactosaminyltransferase 17
The GALNT17 gene codes for the N-acetylgalactosaminyltransferase protein and may play a role in membrane trafficking (NCBI gene).
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!