myopathy caused by variation in POMGNT2

Findings

No curated finding names myopathy caused by variation in POMGNT2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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

• disorder of protein O-glycosylation
• hereditary skeletal muscle disorder
• myopathy

Narrower terms (1)

• congenital muscular dystrophy caused by variation in POMGNT2

Resolves to: myopathy caused by variation in POMGNT2

Also called

myopathy caused by mutation in POMGNT2POMGNT2 myopathyPOMGNT2-related myopathy