myopathy caused by variation in POMGNT1

Findings

No curated finding names myopathy caused by variation in POMGNT1 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

• congenital nervous system disorder
• disorder of protein O-glycosylation
• hereditary neurological disease
• hereditary skeletal muscle disorder
• myopathy

Narrower terms (3)

• autosomal recessive limb-girdle muscular dystrophy type 2O
• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
• muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Resolves to: myopathy caused by variation in POMGNT1

Also called

myopathy caused by mutation in POMGNT1POMGNT1 myopathyPOMGNT1-related myopathy