GLRA2-related disorder (also known as Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM #301076) is characterized by variable degree of developmental delay or intellectual disability. Patients may have hypotonia, motor incoordination, and gait impairment. Epilepsy has been described, including infantile spasms, generalized seizures and myoclonic jerks. Behavioral features may include autism spectrum disorder, attention deficit and hyperactivity. Ocular abnormalities are common, including congenital nystagmus, strabismus, myopia and astigmatism.
GLRA2-related disorder was recently identified and the exact prevalence is unknown. Inheritance is X-linked. Clinical presentation in females depends on the nature of the GLRA2 variant.
GLRA2