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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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.20
The Jackson Laboratory