|
DOID:0080470 - developmental and epileptic encephalopathy 36
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
Synonyms: congenital disorder of glycosylation, type Is, early infantile epileptic encephalopathy 36,
Xenbase Genes
:
alg13
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee