Summary Literature (0)

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: SLC35A2-CDG, congenital disorder of glycosylation type 2m, developmental and epileptic encephalopathy 22, epileptic encephalopathy, early infantile, 22,

Echinobase Genes : slc35a2


OMIM:

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

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

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