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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 female, age 5 with seizures (tonic seizures and spasms) that are resistant to treatment (refractory), global developmental delay, autism, and intermittent problems with coordination (gait ataxia) (read full description).
Nov 10, 2020
diphthamide biosynthesis 7
The DPH7 gene codes for a protein that contains a WD-40 domain and is thought to play a role in diphthamide biosynthesis (Carette et al., 2009).
A de novo 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!