developmental and epileptic encephalopathy 93 Disease Ontology Browser

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developmental and epileptic encephalopathy 93 (DOID:0112275)
Alliance: disease page
Synonyms: DEE93; IECEE3; infantile or early childhood epileptic encephalopathy 3
Alt IDs: OMIM:618012
Definition: A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31.

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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