Variant: rs1382373816 

    present in Gene: MAN1B1
    present in Chromosome: 9
    Position on Chromosome: 137107599
    Alleles of this Variant: AG/-

rs1382373816 in MAN1B1 gene and Dysmorphic features PMID 24348268 2013 MAN1B1 deficiency: an unexpected CDG-II.

PMID 26279649 2015 MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.

PMID 21763484 2011 Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

PMID 24566669 2014 Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

PMID 26577042 2016 Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.