Other Names: CDG syndrome type Is; CDG-Is; CDG1S; Congenital disorder of glycosylation type 1s; Congenital disorder of glycosylation type Is; Congenital disorder of glycosylation, type Is
A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).
NIH genetic and rare disease info
ALG13-CDG is a rare disease.