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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 14 with severe intellectual disability, language delay (receptive and expressive language delay), and mild dysmorphic features (read full description).
Jul 08, 2019
MKL/myocardin-like 2 gene (also known as myocardin transcription factor B)
The MKL2 gene codes for a protein involved in the activation of cardiac muscle promoters (Wang, et al., 2001)
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!