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Disease Ontology Browser
developmental and epileptic encephalopathy 25 (DOID:0080453)
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Synonyms: DEE25; developmental and epileptic encephalopathy 25, with amelogenesis imperfecta; early infantile epileptic encephalopathy 25
Alt IDs: OMIM:615905
Definition: A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.


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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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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory