Synonyms: CDG syndrome type In | CDG-In | CDG1N | Carbohydrate deficient glycoprotein syndrome type In | Congenital disorder of glycosylation type 1n | Congenital disorder of glycosylation type In | Man5GlcNAc2-PP-Dol flippase deficiency
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).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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