disease has basis in dysfunction of SLC35A1 congenital disorder of glycosylation type II SLC35A1-CDG CDG IIf CDG syndrome type IIf CDG-IIf CDG2F CMP-sialic acid transporter deficiency DOID:0070258 GARD:0012409 ICD10:E77.8 MESH:C567040 MONDO:0011342 OMIM:603585 Orphanet:238459 SCTID:723624008 SLC35A1-CDG (CDG-IIf) SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. UMLS:C1970344 carbohydrate deficient glycoprotein syndrome type IIf congenital disorder of glycosylation type 2f congenital disorder of glycosylation type IIf congenital disorder of glycosylation, type IIf disorder of multiple glycosylation non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature congenital disorder of glycosylation with epilepsy as a major feature congenital disorder of glycosylation with nephropathy as a major feature