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DOID:0080467 - developmental and epileptic encephalopathy 2
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.
Synonyms: DEE2, EIEE2, X-linked infantile spasm syndrome 2, early infantile epileptic encephalopathy 2,
Xenbase Genes
:
cdkl5
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee