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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 UDN participant with global developmental delay, generalized low muscle tone, and recurrent respiratory infections (read full description).
Sep 20, 2022
DNAJC10 encodes for an endoplasmic reticulum co-chaperone that is associated with an endoplasmic reticulum-associated complex involved in recognizing and degrading misfolding proteins (Ushioda et al., 2008).
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!