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Craniofacial Syndrome

Patients with a mutation or deletion on the MN1 gene have been found to have a craniofacial syndrome. The known symptoms of this syndrome include brain abnormalities, craniosynostosis, chiari malformation, delayed cognition, seizures, hearing loss, and many others discovered with each new patient. There are few known cases of patients with an MN1 craniofacial syndrome diagnosis, and as new patients are diagnosed, a greater pool of knowledge on common symptoms will be created. The patient registry page on this site includes a link to a pdf registry form that can be completed and submitted to contribute to a database for MN1 patients.

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