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

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