GABRD-related neurodevelopmental disorder with epilepsy
A neurodevelopmental disorder caused by variation in the GABRD gene. This disorder is characterised by developmental delay, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures, intellectual disability, and behavioural abnormalities.
MONDO:0100500
Mendelian neurodevelopmental disorder
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