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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 5 with developmental delay, seizures, congenital cataracts, hearing loss, swallowing difficulty, atrial septal defect, repetitive behaviors (stereotypy), low blood platelet levels (thrombocytopenia), anemia, and a blueberry muffin rash identified at birth (read full description).
Aug 20, 2018
Sad1 and UNC84 domain containing 1
The SUN1 gene codes for a protein that is part of the inner nuclear membrane (Haque et al. 2010).
A homozygous 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!