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Article

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.

American journal of medical genetics. Part A - 1 Oct 2017

Gadomski Therese E, Bolton Melody, Alfadhel Majid, Dvorak Chris, Ogunsakin Olalekan A, Nelson Stephen L, Morava Eva

Abstract excerpt

ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28777499
DOI: 10.1002/ajmg.a.38377

Genes

ALG13

Variants

Provenance

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