FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital disorder of glycosylation type IIm ID (Ontology) DOID:0070265 (Human Disease)
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.
Also Known As "CDG IIm" ; "CDGIIm" ; "congenital disorder of glycosylation type 2m" (for all, see Synonyms field below)
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 Genes
 congenital disorder of glycosylation type IIm       1
 for disease ribbon | congenital disorder of glycosylation type IIm       1
 model of | congenital disorder of glycosylation type IIm       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease_____________________
congenital disorder of glycosylation              |
 |__congenital disorder of glycosylation type II__|
                                                  congenital disorder of glycosylation type IIm  1 rec.
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Is a congenital disorder of glycosylation type II
X-linked dominant disease
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Synonyms
  • "CDG IIm" EXACT OMO:0003012
    "CDGIIm" EXACT OMO:0003012
    "congenital disorder of glycosylation type 2m" EXACT
    "DEE22" EXACT OMO:0003012
    "developmental and epileptic encephalopathy 22" EXACT
    "EIEE22" EXACT OMO:0003012
    "epileptic encephalopathy, early infantile, 22" EXACT
    "SLC35A2-CDG" EXACT OMO:0003012
Secondary IDs
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GARD:12403
MIM:300896
ORDO:356961