Term Name: | developmental and epileptic encephalopathy 5 |
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Synonyms: | DEE5, early infantile epileptic encephalopathy 5 |
Definition: | A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. |
Ontology: | Human Disease [DOID:0080438] ( DOID:0080438 ) |