congenital disorder of glycosylation, type io Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy. (Orphanet Rare Disease Ontology, Orphanet_263494)
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1 genes associated with the congenital disorder of glycosylation, type io phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3