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Article

CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

American journal of medical genetics. Part A - 15 Jul 2005

Weinstein Michael, Schollen Els, Matthijs Gert, Neupert Christine, Hennet Thierry, Grubenmann Claudia E, Frank Christian G, Aebi Markus, Clarke Joe T R, Griffiths Anne, Seargeant Lorne, Poplawski Nicola

Abstract excerpt

We describe the second case of congenital disorder of glycosylation type IL (CDG-IL) caused by deficiency of the ALG9 a1,2 mannosyltransferase enzyme. The female infant's features included psychomotor retardation, seizures, hypotonia, diffuse brain atrophy with delayed myelination, failure to thrive, pericardial effusion, cystic renal disease, hepatosplenomegaly, esotropia, and inverted nipples. Lipodystrophy and...

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Share to Cathepsin A
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15945070
DOI: 10.1002/ajmg.a.30851

Genes

ALG9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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