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Disease Ontology Browser
congenital disorder of glycosylation type IIm (DOID:0070265)
Alliance: disease page
Synonyms: CDG IIm; CDGIIm; congenital disorder of glycosylation type 2m; DEE22; developmental and epileptic encephalopathy 22; EIEE22; epileptic encephalopathy, early infantile, 22; SLC35A2-CDG
Alt IDs: OMIM:300896, ORDO:356961
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory