Journal of Pediatric Neurology
DOI: 10.1055/s-0039-1701045
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Jyotindra Narayan Goswami
1  Department of Pediatrics, Army Hospital (Research & Referral), Dhaula Kuan, New Delhi, India
,
Shuvendu Roy
2  Department of Pediatrics, Command Hospital, Kolkata, West Bengal, India
› Author Affiliations
Funding None.
Further Information

Publication History

11 September 2019

09 December 2019

Publication Date:
28 January 2020 (online)

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.

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.