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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 (8)

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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last database update
04/13/2021
MGI 6.16
The Jackson Laboratory