developmental and epileptic encephalopathy 5 Disease Ontology Browser

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developmental and epileptic encephalopathy 5 (DOID:0080438)
Alliance: disease page
Synonyms: DEE5; early infantile epileptic encephalopathy 5
Alt IDs: OMIM:613477
Definition: A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.

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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