ALG-9 Congenital Disorder of Glycosylation: A Patient with Novel Variants and No Dysmorphism

Abstract

We report a child with ALG-9 congenital disorder of glycosylation (ALG9-CDG) with two novel missense variants on clinical exome sequencing. Unlike the 11 previously reported patients, index child did not have dysmorphism. The case portrays the clinical heterogeneity of ALG-9 CDG.

Keywords

congenital disorder of glycosylation - ALG-9 - epilepsy

Authors' Contributions

J.N.G. contributed to case management, literature review, and preparation of the initial draft of the manuscript.

S.R. was the clinician-in-charge who critically reviewed the manuscript for important intellectual content and approved the final version to be published.

Publikationsverlauf

Eingereicht: 11. September 2019

Angenommen: 09. Dezember 2019

Artikel online veröffentlicht:
28. Januar 2020

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