If any of these participants sound like you or someone you know, please contact us!Contact Us
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 the SGSH gene was identified in a UDN participant with autism, delayed speech and development, gap between larynx and esophagus (laryngeal cleft), and low muscle tone (hypotonia)
Dec 01, 2023
This gene codes for a protein that catalyzes the degradation of lysosomal heparan sulfate (Muschol et al., 2004).
A heterozygous change in this gene was identified in a UDN participant.
Interested in learning more about this gene or sharing what you know? Contact us!