/XYLT1-congenital disorder of glycosylation

XYLT1-congenital disorder of glycosylation

Rare Disease

MONDO:0018273

Also Known As

XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylationXYLT1-congenital disorder of glycosylationXYLT18-CDG

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Neu-Laxova syndrome

MONDO:0000179

congenital disorder of glycosylation type I

MONDO:0005500

congenital disorder of glycosylation type II

MONDO:0005501

acrofacial dysostosis, Catania type

MONDO:0007045

aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

MONDO:0007143

blepharonasofacial malformation syndrome

MONDO:0007200