Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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
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Congenital disorder of glycosylation 1A
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Congenital disorder of glycosylation 1L
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ALG9
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Congenital disorder of glycosylation 1N
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Gillessen-Kaesbach-Nishimura syndrome
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| 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
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