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Echinobase
Summary Literature (0)
DOID:0070385 - developmental and epileptic encephalopathy 99

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13.

Synonyms: DEE99, early infantile epileptic encephalopathy 99,

Echinobase Genes :



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)