developmental and epileptic encephalopathy 40 Disease Ontology Browser

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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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