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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 male, age 12 with intellectual disability, seizures, brain abnormalities (ventriculomegaly, malrotation of bilateral hippocampi), and a bulging, weakened wall of the aortic root (aortic root aneurysm) (read full description).
Jul 29, 2019
Nuclear receptor-binding protein 1
The NRBP1 gene codes for a protein that plays a role in endoplasmic reticulum and Golgi apparatus trafficking (De Langhe, et al. 2002).
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!