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Disease Ontology Browser
developmental and epileptic encephalopathy 62 (DOID:0080420)
Alliance: disease page
Synonyms: DEE62; early infantile epileptic encephalopathy 62
Alt IDs: OMIM:617938
Definition: A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.

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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