Term Name: developmental and epileptic encephalopathy 19
Synonyms: DEE19, early infantile epileptic encephalopathy 19
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34.
Ontology: Human Disease [DOID:0080431]   ( DOID:0080431 )

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