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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 the PTER gene were identified in male, age 1, with abnormal white matter of the brain (leukodystrophy), global developmental delay, abnormal brain electrical activity, and eye abnormalities (visual impairment, optic atrophy, esotropia) (read full description).
Jun 09, 2021
The PTER gene codes for an enzyme that catalyzes the hydrolysis of phosphotriester molecules (Alimova-Kost et al., 1998).
Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!