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
Congenital disorder of glycosylation 1N
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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3.

OMIM.ORG article

Omim 608776 [^]
Update: April 29, 2019