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Disease Ontology Browser
developmental and epileptic encephalopathy 1 (DOID:0080468)
Alliance: disease page
Synonyms: DEE1; early infantile epileptic encephalopathy 1; X-linked infantile spasm syndrome 1
Alt IDs: OMIM:308350
Definition: A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21.

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
11/19/2024
MGI 6.24 		The Jackson Laboratory