Congenital disorder of glycosylation 1L is like Gillessen-Kaesbach-Nishimura syndrome an autosomal recessive disorder caused by mutations of the ALG9 gene.
Congenital disorder of glycosylation | ||||
Congenital disorder of glycosylation 1A | ||||
Congenital disorder of glycosylation 1L | ||||
ALG9 | ||||
Congenital disorder of glycosylation 1N | ||||
Gillessen-Kaesbach-Nishimura syndrome | ||||
1. |
Frank CG et al. (2004) Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. |
2. |
Weinstein M et al. (2005) CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. |
3. |
OMIM.ORG article Omim 608776 |