RFT1-congenital disorder of glycosylation
RFT1-congenital disorder of glycosylation
Definition
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).
Also known as carbohydrate deficient glycoprotein syndrome type In, CDG syndrome type In, CDG-In, CDG1N, congenital disorder of glycosylation type 1n, congenital disorder of glycosylation type In, Man5GlcNAc2-PP-Dol flippase deficiency, RFT1-CDG, RFT1-congenital disorder of glycosylation — per MONDO