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Congenital muscular dystrophy with intellectual disability and severe epilepsy

Just diagnosed with Congenital muscular dystrophy with intellectual disability and severe epilepsy?

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Congenital muscular dystrophy with intellectual disability and severe epilepsy, look for clinical trials, and connect with others living with it — all in one place.

Open the full Congenital muscular dystrophy with intellectual disability and severe epilepsy hub →

Overview

Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare condition. Also known as CDG syndrome type Iu, CDG-Iu, CDG1U, CMD with intellectual disability and severe epilepsy, Carbohydrate deficient glycoprotein syndrome type Iu, Congenital disorder of glycosylation type 1u, Congenital disorder of glycosylation type Iu, DPM2-CDG. Tomeko brings together the specialists, research, clinical trials, treatments and community for Congenital muscular dystrophy with intellectual disability and severe epilepsy so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:329178 · OMIM 615042 · ICD-10 E77.8 · GARD 0012416

Find care for Congenital muscular dystrophy with intellectual disability and severe epilepsy

Authoritative references for Congenital muscular dystrophy with intellectual disability and severe epilepsy

Common questions

I was just diagnosed with Congenital muscular dystrophy with intellectual disability and severe epilepsy — what should I do first?

Start by learning the basics from an authoritative source, find a specialist or center that sees Congenital muscular dystrophy with intellectual disability and severe epilepsy, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for Congenital muscular dystrophy with intellectual disability and severe epilepsy?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Congenital muscular dystrophy with intellectual disability and severe epilepsy, filtered to your area.

Are there clinical trials for Congenital muscular dystrophy with intellectual disability and severe epilepsy?

Tomeko shows live, recruiting studies for Congenital muscular dystrophy with intellectual disability and severe epilepsy 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