congenital muscular dystrophy with intellectual disability and severe epilepsy

Findings

No curated finding names congenital muscular dystrophy with intellectual disability and severe epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• congenital disorder of glycosylation type I
• disorder of multiple glycosylation
• hereditary neuromuscular disease
• hereditary skeletal muscle disorder
• muscular dystrophy-dystroglycanopathy

Resolves to: congenital muscular dystrophy with intellectual disability and severe epilepsy

Also called

carbohydrate deficient glycoprotein syndrome type IuCDG syndrome type IuCDG-IuCDG1UCMD with intellectual disability and severe epilepsycongenital disorder of glycosylation type 1ucongenital disorder of glycosylation type IuDPM2-CDG