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DOID:0080471 - developmental and epileptic encephalopathy 92
Disease Ontology 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.
Synonyms:
Xenbase Genes
:
gabrb2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
developmental and epileptic encephalopathy (is_a),
electroclinical syndrome (is_a)