GRIN2B

Professionals

GRIN2B-related neurodevelopmental disorder is characterized by DD/ID, muscular hypotonia, epilepsy and movement disorder. To date, fewer than 200 individuals with GRIN2B-related neurodevelopmental disorder have been reported. All affected individuals known so far have developmental delay preceding intellectual disabiliy of various degree, ranging from mild to usually severe-to-profound. Epilepsy is seen in half of affected individuals with numerous possible semiologies. Additional features are muscular hypotonia, spasticity, movement disorders, cortical visual impairment and autism spectrum disorder. GRIN2B-related neurodevelopmental disorder is inherited in an autosomal dominant manner. All individuals reported to date with a GRIN2B-related neurodevelopmental disorder whose parents have undergone molecular genetic testing have the disorder as a result of a de novo GRIN2B pathogenic variant or deletion.