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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 2 with global developmental delay, brain abnormalities, abnormal head movements, and trembling during precise movement (intention tremor) (read full description).
Apr 18, 2019
solute carrier family 39 member 8
The SLC39A8 gene codes for a protein important in the function of zinc and manganese transporters. Defects in this gene have been linked to mitochondrial disorders, manganese deficiency, and congenital disorders of glycosylation (Riley, et al., 2017).
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.
*Note: only one variant identified.
Interested in learning more about this gene or sharing what you know? Contact us!