GRIN2A-related neurodevelopmental disorder is characterized by speech disorders, epilepsy and often developmental delay/intellectual disability (DD/ID). To date, more than 200 individuals with GRIN2A-related neurodevelopmental disorder have been reported.
Whereas one third of affected individuals have normal intellect, two third have DD/ID. Epilepsy is seen in nearly 90% of affected individuals with numerous possible semiologies. Additional features comprise muscular hypotonia, movement disorders, autism spectrum disorders and/or other behavior or psychiatric problems, including schizophrenia. GRIN2A-related neurodevelopmental disorder is inherited in an autosomal dominant manner, because of either a de novo or an inherited GRIN2A pathogenic variant or deletion.
GRIN2A