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On this page, you will find information about genetic changes that were 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 developmental regression, absent speech, seizures, and distinct facial features (read full description).
Jun 12, 2018
Protein phosphatase 2 catalytic subunit beta
The PP2CB gene codes for a protein phosphatase involved in regulatory cell growth control (Hoffmeister et al., 2014).
Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!