congenital disorder of glycosylation, type iif Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. (Orphanet Rare Disease Ontology, Orphanet_238459)
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1 genes associated with the congenital disorder of glycosylation, type iif phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1