Last update 01 Nov 2024

Congenital Disorder of Glycosylation Type 1A

Basic Info

Synonyms
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY, CDG - Carbohydrate-deficient glycoprotein syndrome type I, CDG Ia
+ [26]
Introduction
A congenital disorder of glycosylation sub-type caused by mutation(s) in the PMM2 gene, encoding phosphomannomutase 2.

Analysis

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