Term Name:	developmental and epileptic encephalopathy 34
Synonyms:	DEE34, early infantile epileptic encephalopathy 34
Definition:	A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.
Ontology:	Human Disease [DOID:0080460]   ( DOID:0080460 )