label: Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Dominant
label_lc: neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
description: An autosomal dominant condition caused by mutation(s) in the GRIN1 gene, encoding glutamate receptor ionotropic, NMDA 1. It is characterized by developmental delay, intellectual disability and may include epilepsy and associated muscular disorders.