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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 PRKAR1B gene was identified in a now 8-year-old boy with low muscle tone (hypotonia), developmental delay, and increased weight (read full description).
Apr 21, 2021
Protein kinase cAMP-dependent type I regulatory subunit beta
The PRKAR1B gene encodes the the R1β subunit of the cyclic AMP-dependent protein kinase A (PKA) (Solberg et al., 1992).
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