congenital disorder of glycosylation type IIt

Term ID

DOID:0051049

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. https://pubmed.ncbi.nlm.nih.gov/32293671/

References

MIM:618885

Ontology

Human Disease ( DOID:0051049 )

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