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Congenital Disorder of Glycosylation Id
A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and is caused by homozygous or compound heterozygous mutation in the ALG3
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Overview
A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and is caused by homozygous or compound heterozygous mutation in the ALG3
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