Term Name: developmental and epileptic encephalopathy 59
Synonyms: DEE59, early infantile epileptic encephalopathy 59
Definition: A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.
Ontology: Human Disease [DOID:0080291]   ( DOID:0080291 )

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