developmental and epileptic encephalopathy 5

Summary

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,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sptan1

OMIM:

MIM:613477 - epileptic encephalopathy, early infantile, 5; eiee5

MIM:613477 - epileptic encephalopathy, early infantile, 5; eiee5

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), developmental and epileptic encephalopathy (is_a)