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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 DPH6 gene was identified in a female, age 10, with musculoskeletal anomalies, congenital heart disease, dysmorphic facial features, and global developmental delay (read full description).
Oct 29, 2021
diphthamine biosynthesis 6
This gene encodes an enzyme that functions during the final steps of an amino acid synthesis pathway (Uthman et al., 2013).
Two changes in this gene were 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!