Condition: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn


rs373562040 in SLC39A8 gene and CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn PMID 26637979 2015 SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

PMID 26637978 2015 Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.