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

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

MIM:

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

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

Other Model Organisms: Alliance, 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)