GABRD-related neurodevelopmental disorder with epilepsy
MONDO:0700359Mondo
Findings
No curated finding names GABRD-related neurodevelopmental disorder with epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0700359), read 2026-09-29. CC BY 4.0.