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Congenital Disorder of Glycosylation Ie
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and is caused by homozygous or compound heterozygous mutation in the DPM1 gene
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Overview
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and is caused by homozygous or compound heterozygous mutation in the DPM1 gene
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