Term Name: developmental and epileptic encephalopathy 92
Synonyms:
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.
Ontology: Human Disease [DOID:0080471]   ( DOID:0080471 )

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy