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.
MONDO:0100500
Mendelian neurodevelopmental disorder
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