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 the NBEA gene was identified in a female, age 11, with seizures, weekly episodes of confusion and hallucination, problems with coordination (ataxia), tremor, ulcerative colitis, pancreas inflammation (pancreatitis), and developmental delay (read full description).
Aug 25, 2021
neurobeachin
The NBEA gene codes for proteins that bind and localize other proteins to the membrane of a cell (Trendelenburg et al., 1996).
A change in this gene was identified in a UDN participant.
Interested in learning more about this gene or sharing what you know? Contact us!