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B4GALT1-congenital disorder of glycosylation

Just diagnosed with B4GALT1-congenital disorder of glycosylation?

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees B4GALT1-congenital disorder of glycosylation, look for clinical trials, and connect with others living with it — all in one place.

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Overview

B4GALT1-congenital disorder of glycosylation is a rare condition. Also known as Beta-1,4-galactosyltransferase deficiency, CDG syndrome type IId, CDG-IId, CDG2D, Carbohydrate deficient glycoprotein syndrome type IId, Congenital disorder of glycosylation type 2d, Congenital disorder of glycosylation type IId. Tomeko brings together the specialists, research, clinical trials, treatments and community for B4GALT1-congenital disorder of glycosylation so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:79332 · OMIM 607091 · ICD-10 E77.8 · GARD 0009841

Find care for B4GALT1-congenital disorder of glycosylation

Authoritative references for B4GALT1-congenital disorder of glycosylation

Common questions

I was just diagnosed with B4GALT1-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 B4GALT1-congenital disorder of glycosylation, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for B4GALT1-congenital disorder of glycosylation?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat B4GALT1-congenital disorder of glycosylation, filtered to your area.

Are there clinical trials for B4GALT1-congenital disorder of glycosylation?

Tomeko shows live, recruiting studies for B4GALT1-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