developmental and epileptic encephalopathy 69 Disease Ontology Browser

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developmental and epileptic encephalopathy 69 (DOID:0112205)
Alliance: disease page
Synonyms: DEE69; early infantile epileptic encephalopathy 69
Alt IDs: OMIM:618285
Definition: A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3.

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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