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Metadata
ID DOID:0051049
Name congenital disorder of glycosylation type IIt
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.
https://pubmed.ncbi.nlm.nih.gov/32293671/
Xrefs

MIM:618885

Parent Relationships

is_a congenital disorder of glycosylation type II

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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