Term Name: | developmental and epileptic encephalopathy 92 |
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Synonyms: | |
Definition: | A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. |
Ontology: | Human Disease [DOID:0080471] ( DOID:0080471 ) |