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DOID:0070545 - developmental and epileptic encephalopathy 116
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3.
Synonyms: DEE116,
Xenbase Genes
:
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
amino acid metabolic disorder (is_a),
autosomal dominant disease (is_a),
developmental and epileptic encephalopathy (is_a)