congenital disorder of glycosylation type IIt Disease Ontology Browser

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Disease Ontology Browser

congenital disorder of glycosylation type IIt (DOID:0051049)
Alliance: disease page
Alt IDs: OMIM:618885
Definition: A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41.

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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