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Article

Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jul 2007

Coman D, McGill J, MacDonald R, Morris D, Klingberg S, Jaeken J, Appleton D

Abstract excerpt

We report 3 siblings (1 male and 2 female) recently diagnosed with congenital disorder of glycosylation type Ia (CDG-Ia) in their mid-20s. They experience mild mental retardation but manage to function independently in society. Their professions are library assistant, professional artistic painter and secretarial work. All three siblings have cerebellar hypoplasia and ataxia, but are able to ambulate easily. Two...

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Source

Identifiers

PMID: 17451957
DOI: 10.1016/j.jocn.2006.04.008

Genes

PMM2

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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