Condition: Congenital disorder of glycosylation type 1L


rs121908022 in ALG9 gene and Congenital disorder of glycosylation type 1L PMID 15945070 2005 CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

PMID 15148656 2004 Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

rs745590426 in ATP6V0A2 gene and Congenital disorder of glycosylation type 1L PMID 19321599 2009 Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.