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developmental and epileptic encephalopathy 104 (DOID:0070390)
Alliance: disease page
Synonyms: DEE104; early infantile epileptic encephalopathy 104
Alt IDs: OMIM:619970
Definition: A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.

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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11/19/2024
MGI 6.24 		The Jackson Laboratory