Term Name: | developmental and epileptic encephalopathy 25 |
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Synonyms: | DEE25, developmental and epileptic encephalopathy 25, with amelogenesis imperfecta, early infantile epileptic encephalopathy 25 |
Definition: | A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. |
Ontology: | Human Disease [DOID:0080453] ( DOID:0080453 ) |