Term Name: developmental and epileptic encephalopathy 27
Synonyms: DEE27, early infantile epileptic encephalopathy 27
Definition: A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12.
Ontology: Human Disease [DOID:0080444]   ( DOID:0080444 )

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