GRIN1-related complex neurodevelopmental disorder
A neurodevelopmental disorder caused by variation in the GRIN1 gene. It is characterized by mild-to-profound developmental delay/intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior issues. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria.
MONDO:1060138
GRIN-related complex neurodevelopmental disorder
is_a
GRIN1-related developmental and epileptic encephalopathy
exact
GRIN1-related neurodevelopmental disorder
exact