Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Mendelian neurodevelopmental disorder
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.
This condition has no sub-types.