Congenital disorder of glycosylation type 2C: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2c is caused by a defect on chromosome 11p11.2 and involves a defect in the gene for GDP-fucose transporter. More detailed information about the symptoms, causes, and treatments of Congenital disorder of glycosylation type 2C is available below.
See full list of 17 symptoms of Congenital disorder of glycosylation type 2C
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