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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 the EBF2 gene was identified in a 24-year-old female with global developmental delay, intellectual disability, brain abnormality (Arnold-Chiari type I malformation), overactive thyroid (hyperthyroidism), and brittle bones (osteopenia) (read full description).
Jun 15, 2021
EBF transcription factor 2
The EBF2 gene codes for a transcription factor that plays a role in neural development and B-cell maturation (Wang et al., 2002).
A de novo 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!