Term Name: developmental and epileptic encephalopathy 96
Synonyms: DEE96
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21.
Ontology: Human Disease [DOID:0070377]   ( DOID:0070377 )

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