If any of these participants sound like you or someone you know, please contact us!Contact Us
On this page, you will find information about a genetic change that was identified in a UDN participant.
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 5 with seizures (status epilepticus), developmental regression, and eye abnormalities (strabismus, esotropia) (read full description).
Mar 04, 2020
mitochondrial ribosomal protein s12
The MRPS12 gene encodes ribosomal protein s12, which is a core component of the mitochondrial ribosome (Johnson et al., 1998).
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!