• Developmental delay, learning difficulties or intellectual disability (13/13)
• Hypotonia, motor incoordination, with or without gait impairment (7/13)
• Epilepsy - infantile spasms, generalized seizures and myoclonic seizures (6/13)
• Behavioral abnormalities – autistic features/autism spectrum disorder (5/13), attention deficit and hyperactivity (6/13)
• Ocular abnormalities - congenital nystagmus, strabismus, myopia and astigmatism (10/13)
• Microcephaly (4/13)
• Sleep disturbance (5/13)
GLRA2