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On this page, you will find information about a genetic change that was identified in a UDN participant.
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 the ASXL2 gene was identified in a male, age 8 who is larger than average (macrosomia) and has atypical facial features (including a large birthmark on his forehead (glabellar hemangioma)), a decrease in brain white matter (cerebral white matter atrophy), and learning difficulties (read full description).
Jul 01, 2016
Additional sex combs-like 2
The ASXL2 gene is the human homolog of the Drosophila asx gene. The asx gene enhances the function of a gene that codes for a protein involved in transcriptional activation and silencing (Katoh and Katoh, 2003).
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