developmental and epileptic encephalopathy 34 (DOID:0080460)
Alliance: disease page
Synonyms: DEE34; early infantile epileptic encephalopathy 34
Alt IDs: OMIM:616645
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.