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DOID:0080460 - developmental and epileptic encephalopathy 34
Disease Ontology 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.
Synonyms: DEE34, early infantile epileptic encephalopathy 34,
Xenbase Genes
:
slc12a5
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)