Term Name: | developmental and epileptic encephalopathy 3 |
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Synonyms: | early infantile epileptic encephalopathy 3 |
Definition: | A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. |
Ontology: | Human Disease [DOID:0080440] ( DOID:0080440 ) |