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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 4 with global developmental delay, low muscle tone of trunk (hypotonia), seizures, a history of clubbed feet (bilateral talipes equinovarus), head turned persistently to the right (torticollis), and webbing of the penis (penoscrotal fusion) (read full description).
Jan 22, 2021
potassium voltage-gated channel subfamily H member 3
The KCNH3 gene contributes to the formation of a voltage-gated potassium channel found in the human brain (cerebral cortex, amygdala, hippocampus, others). It is suspected to play a role in the cellular excitability of restricted neurons in the brain (Miyake et al., 1999).
A de novo 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!