/RFT1-congenital disorder of glycosylation

RFT1-congenital disorder of glycosylation

Rare Disease

MONDO:0012783

Also Known As

CDG syndrome type InCDG-InCDG1NMan5GlcNAc2-PP-Dol flippase deficiencyRFT1-CDGRFT1-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type Incongenital disorder of glycosylation type 1ncongenital disorder of glycosylation type InCDG inCDGINRFT1-CDG (CDG-In)congenital disorder of glycosylation, type In

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).