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Congenital Disorder of Glycosylation If
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and is caused by homozygous or compound heterozygous mutation in the MP
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Overview
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and is caused by homozygous or compound heterozygous mutation in the MP
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