Scientists 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.

This article was originally published on MedicalXpress.com

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