Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Mendelian neurodevelopmental disorder
GABRA4-related neurodevelopmental disorder with seizures
A neurodevelopmental disorder caused by variation in the GABRA4 gene. This disorder is characterised by developmental delay, epileptiform EEG abnormalities, and autism spectrum disorder, and/or attention deficit hyperactivity disorder. Other phenotypes observed less frequently include seizures, brain MRI abnormalities, and intellectual disability.
This condition has no sub-types.