Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital disorder of glycosylation 1L

Congenital disorder of glycosylation 1L is like Gillessen-Kaesbach-Nishimura syndrome an autosomal recessive disorder caused by mutations of the ALG9 gene.

Systematic

Congenital disorder of glycosylation
Congenital disorder of glycosylation 1A
Congenital disorder of glycosylation 1L
ALG9
Gillessen-Kaesbach-Nishimura syndrome

References:

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.

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2.

Weinstein M et. al. (2005) CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

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Update: Sept. 26, 2018