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Disease Ontology Browser
developmental and epileptic encephalopathy 40 (DOID:0080427)
Alliance: disease page
Synonyms: 'DEE40'; 'early infantile epileptic encephalopathy 40'
Alt IDs: OMIM:617065
Definition: A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12.


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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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory