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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Advocacy Organizations


Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.