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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 male, age 3, with global developmental delay, low muscle tone, and feeding difficulties (read full description).
Dec 10, 2019
DMRT like family A2
The DMRTA2 gene codes for the protein Dmrta2 in the Dmrt family of transcription factors. This protein family plays a role in the developing reproductive system. In addition, Dmrta2 also plays a role in the developing brain, specifically the maintenance of neural progenitor cells during cortical development (Young 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.
Interested in learning more about this gene or sharing what you know? Contact us!