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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 the CHL1 gene was identified in a UDN participant with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well-treated and controlled (read full description).
Feb 23, 2023
Cell Adhesion Molecule L1 like
CHL1 gene is responsible for creating a molecule that regulates uncoating of clathrin-coated synaptic vesicles (Leshchyns’ka et al., 2006).
NCBI Gene: 10752
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!