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Article

CDG-Id in two siblings with partially different phenotypes.

American journal of medical genetics. Part A - 1 Jul 2007

Kranz Christian, Sun Liangwu, Eklund Erik A, Krasnewich Donna, Casey Janet R, Freeze Hudson H

Abstract excerpt

We present two sibs with congenital disorder of glycosylation (CDG) type Id. Each shows severe global delay, failure to thrive, seizures, microcephaly, axial hypotonia, and disaccharidase deficiency. One sib has more severe digestive issues, while the other is more neurologically impaired. Each is compound heterozygous for a novel point mutation and an already known mutation in the ALG3 gene that leads to the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17551933
DOI: 10.1002/ajmg.a.31796

Genes

ALG3

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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