developmental and epileptic encephalopathy 3

Summary

DOID:0080440 - developmental and epileptic encephalopathy 3

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.

Synonyms: early infantile epileptic encephalopathy 3,

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

OMIM:

MIM:609304 - epileptic encephalopathy, early infantile, 3; eiee3

MIM:609304 - epileptic encephalopathy, early infantile, 3; eiee3

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), developmental and epileptic encephalopathy (is_a)