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Article

CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).

European journal of medical genetics - 1 Jan 2000

Schollen E, Grünewald S, Keldermans L, Albrecht B, Körner C, Matthijs G

Abstract excerpt

We report on a patient with a congenital disorder of glycosylation type Id (CDG-Id) caused by a homozygous mutation in the ALG3 gene, which results from a de novo mutation in combination with a segmental maternal uniparental isodisomy (UPD). The patient presented with severe psychomotor delay, primary microcephaly, and opticus atrophy, compatible with a severe form of CDG. Isoelectric focusing of transferrin...

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Share to Carbohydrate Metabolism, Inborn Errors
Share to Chromosomes, Human, Pair 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Optic Atrophies, Hereditary

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Source

Identifiers

PMID: 16053906
DOI: 10.1016/j.ejmg.2005.01.002

Genes

ALG3

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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