Term Name: congenital disorder of glycosylation type IIt
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 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type II