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Disease Ontology Browser
developmental and epileptic encephalopathy 2 (DOID:0080467)
Alliance: disease page
Synonyms: DEE2; early infantile epileptic encephalopathy 2; EIEE2; X-linked infantile spasm syndrome 2
Alt IDs: OMIM:300672
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.

Disease References using Mouse Models (9)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory