has material basis in germline mutation in RFT1 congenital disorder of glycosylation type I RFT1-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_in congenital disorder of glycosylation, type In RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1). UMLS:C2677590 RFT1-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type In congenital disorder of glycosylation type 1n GARD:0012394 OMIM:612015 CDG in CDG1N MESH:C567437 MEDGEN:383145 CDG syndrome type In CDG-In CDGIN Man5GlcNAc2-PP-Dol flippase deficiency congenital disorder of glycosylation type In Orphanet:244310 MONDO:0012783 RFT1-CDG RFT1-CDG (CDG-In) SCTID:733084000 DOID:0080566 developmental anomaly of metabolic origin disorder of protein N-glycosylation