Mendelian Rare Diseases CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M Slc35a2-cdg Description SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick[…]
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