Term Name: | congenital disorder of glycosylation type IIt |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0051049] ( DOID:0051049 ) |