Term Name: | developmental and epileptic encephalopathy 93 |
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Synonyms: | DEE93, IECEE3, infantile or early childhood epileptic encephalopathy 3 |
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. |
Ontology: | Human Disease [DOID:0112275] ( DOID:0112275 ) |