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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 8 with global developmental delay, hypotonia, a movement disorder, and brain abnormalities (hypomyelination, cerebellar atrophy) (read full description).
Jul 09, 2020
Translocase of outer mitochondrial membrane 70
The TOMM70 gene codes for a mitochondrial membrane complex protein involved in the transport of molecules into the mitochondria (Alvarez-Dolado et al. 1999).
A change in this gene was identified in a UDN participant.
Interested in learning more about this gene or sharing what you know? Contact us!