Term Name: | generalized epilepsy with febrile seizures plus 9 |
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Synonyms: | GEFS+9, GEFSP9, generalised epilepsy with febrile seizures plus 9, generalised epilepsy with febrile seizures plus type 9, generalized epilepsy with febrile seizures plus type 9 |
Definition: | A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2. |
Ontology: | Human Disease [DOID:0111301] ( DOID:0111301 ) |