<unk> s (also<unk> -related disorders) are a group of neurodevelopmental disorders that result from mutations in genes coding for subunits of an N-methyl-D-aspartate (NMDA) receptor, which leads to dysfunction of glutamate signaling.<unk> s are universally characterized by a varying degree of developmental delay and intellectual disability, as well as epileptic seizures. Other clinical features vary depending on the affected gene and may include muscular hypotonia, spasticity, and movement disorders.<unk> s are confirmed with genetic testing and managed symptomatically since there is currently no cure for the disorder.
GRIN disorder
SYT1-associated neurodevelopmental disorder
Krabbe disease
CADASIL
Foster Kennedy syndrome
Poland syndrome
MECP2 duplication syndrome
Sandhoff disease