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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 17 with intellectual disability, history of leukemia, heart abnormalities, and multiple abnormal bone and cartilage growths (osteochondromas) (read full description).
Jun 03, 2019
The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. It has been associated with Lamb-Shaffer syndrome, which is characterized by global developmental delay, intellectual disability, speech delay and mild dysmorphic facial features (Lamb et al., 2012).
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!