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RFT1-congenital disorder of glycosylation

Just diagnosed with RFT1-congenital disorder of glycosylation?

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees RFT1-congenital disorder of glycosylation, look for clinical trials, and connect with others living with it — all in one place.

Open the full RFT1-congenital disorder of glycosylation hub →

Overview

RFT1-congenital disorder of glycosylation is a rare condition. Also known as 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. Tomeko brings together the specialists, research, clinical trials, treatments and community for RFT1-congenital disorder of glycosylation so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:244310 · OMIM 612015 · ICD-10 E77.8 · GARD 0012394

Find care for RFT1-congenital disorder of glycosylation

Authoritative references for RFT1-congenital disorder of glycosylation

Common questions

I was just diagnosed with RFT1-congenital disorder of glycosylation — what should I do first?

Start by learning the basics from an authoritative source, find a specialist or center that sees RFT1-congenital disorder of glycosylation, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for RFT1-congenital disorder of glycosylation?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat RFT1-congenital disorder of glycosylation, filtered to your area.

Are there clinical trials for RFT1-congenital disorder of glycosylation?

Tomeko shows live, recruiting studies for RFT1-congenital disorder of glycosylation from ClinicalTrials.gov on the hub.

Informational only — not medical advice. Always consult a qualified clinician. Provider and reference data from public sources (NIH GARD, Orphanet, OMIM, HPO, MONDO, ClinicalTrials.gov, CMS NPPES). © Tomeko · tomekohealth.com