| Term Name: | developmental and epileptic encephalopathy 93 |
|---|---|
| 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 ) |