developmental and epileptic encephalopathy 92 (DOID:0080471)
Alliance: disease page
Alt IDs: OMIM:617829
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.