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Disease Ontology Browser
developmental and epileptic encephalopathy 53 (DOID:0080464)
Alliance: disease page
Synonyms: DEE53; early infantile epileptic encephalopathy 53
Alt IDs: OMIM:617389
Definition: A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22.


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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
05/21/2024
MGI 6.23
The Jackson Laboratory