| Term Name: | developmental and epileptic encephalopathy 114 |
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| Synonyms: | |
| Definition: | A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_material_basis_in heterozygous mutation in the SLC32A1 gene on chromosome 20q11. |
| Ontology: | Human Disease [DOID:0051086] ( DOID:0051086 ) |