Scientists unravel mystery of rare neurodevelopmental disorder, provide definitive diagnoses to 21 families worldwide
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21 June 2022Scientists unravel mystery of rare neurodevelopmental disorder, provide definitive diagnoses to 21 families worldwide
A collaborative team of scientists led by Mayo Clinic’s Center for Individualized Medicine has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome. Symptoms of the disorder range from speech and motor impairment to behavioral abnormalities, intellectual disability and distinctive facial features.
