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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 2, with seizures, profound global developmental delay, involuntary movements (chorea), and elevated serum pipecolic acid (read full description).
Mar 29, 2019
Zinc finger and BTB domain containing 47
The ZBTB47 gene codes for a protein thought to be involved in the regulation of transcription.
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!