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...
Comprehensive, easy-to-understand information about this condition
How we create this content →Report Generation Failed
We couldn't automatically generate the report. This may be due to temporary service issues.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.