congenital disorder of glycosylation type IIm

Summary

DOID:0070265 - congenital disorder of glycosylation type IIm

Disease Ontology Definition:A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.

Synonyms: congenital disorder of glycosylation type 2m, developmental and epileptic encephalopathy 22, epileptic encephalopathy, early infantile, 22, SLC35A2-CDG, CDG IIm, CDGIIm, DEE22, EIEE22

Echinobase 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

: slc35a2

MIM:

MIM:300896 - congenital disorder of glycosylation, type iim; cdg2m

MIM:300896 - congenital disorder of glycosylation, type iim; cdg2m

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

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

Parent(s): congenital disorder of glycosylation type II (is_a), X-linked dominant disease (is_a)