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Summary Literature (0)
DOID:0080438 - developmental and epileptic encephalopathy 5

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.

Synonyms: DEE5, early infantile epileptic encephalopathy 5,

Xenbase Genes : sptan1



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a)