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On this page, you will find information about genetic changes that were 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.
Changes in this gene were identified in two UDN participants with developmental delay and abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally) (read full description).
Feb 13, 2018
Mitochondrial trans-2-enoyl-CoA reductase
The MECR gene codes for a protein involved in mitochondrial fatty acid synthesis (Heimer et. al., 2016).
Interested in learning more about this gene or sharing what you know? Contact us!