Term Name: developmental and epileptic encephalopathy 45
Synonyms: DEE45, early infantile epileptic encephalopathy 45
Definition: A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13.
Ontology: Human Disease [DOID:0080428]   ( DOID:0080428 )

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