Clinical characteristics
Individuals with GRIA1-4 related syndrome have developmental delay / intellectual disability. Congenital hypotonia, feeding difficulties, behavioral problems, and epilepsy may also be observed.
Inheritance:
GRIA1: Unpublished but autosomal dominant
GRIA2: Autosomal dominant
GRIA3: X-linked but due to both gain and loss of function of variants, both males and females are affected.
GRIA4: Autosomal dominant
GRIA1/GRIA2/GRIA3/GRIA4