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 Icc ID (Ontology) DOID:0111839 (Human Disease)
Definition A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1.
Also Known As "congenital disorder of glycosylation type Icc"
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 Genes
 congenital disorder of glycosylation Icc       1
 for disease ribbon | congenital disorder of glycosylation Icc       1
 model of | congenital disorder of glycosylation Icc       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease___________________
congenital disorder of glycosylation             |
 |__congenital disorder of glycosylation type I__|
                                                 congenital disorder of glycosylation Icc  1 rec.
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Is a congenital disorder of glycosylation type I
X-linked recessive disease
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Synonyms
  • "congenital disorder of glycosylation type Icc" EXACT
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MIM:301031