congenital disorder of glycosylation type IIn

Term ID

DOID:0070266

Synonyms

• Carbohydrate deficient glycoprotein syndrome type IIn
• CDG IIn
• CDG syndrome type IIn
• CDG2N
• CDGIIn
• Congenital disorder of glycosylation type 2n
• SLC39A8-CDG

Definition

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. https://www.ncbi.nlm.nih.gov/pubmed/26637978

References

• MIM:616721
• ORDO:468699

Ontology

Human Disease   ( DOID:0070266 )