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Human Disease

developmental and epileptic encephalopathy 92

Term ID
DOID:0080471
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. (2)
References
Ontology
Human Disease   ( DOID:0080471 )
Relationships
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Genes Involved
Zebrafish Models