developmental and epileptic encephalopathy 36

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: alg13

MIM:

MIM:300884 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36; DEE36

MIM:300884 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36; DEE36

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): developmental and epileptic encephalopathy (is_a), X-linked dominant disease (is_a)