congenital disorder of glycosylation type IIy

Term ID

DOID:0051052

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. https://pubmed.ncbi.nlm.nih.gov/32395830/

References

MIM:620200

Ontology

Human Disease ( DOID:0051052 )

Relationships

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

autosomal recessive disease congenital disorder of glycosylation type II Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models