Term Name: congenital disorder of glycosylation type IIy
Synonyms:
Definition: A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22.
Ontology: Human Disease [DOID:0051052]   ( DOID:0051052 )

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