autosomal recessive limb-girdle muscular dystrophy

Findings

No curated finding names autosomal recessive limb-girdle muscular dystrophy 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

• autosomal recessive disease
• hereditary neuromuscular disease
• hereditary skeletal muscle disorder
• limb-girdle muscular dystrophy

Narrower terms (32)

• autosomal recessive limb-girdle muscular dystrophy type 2A
• autosomal recessive limb-girdle muscular dystrophy type 2B
• autosomal recessive limb-girdle muscular dystrophy type 2C
• autosomal recessive limb-girdle muscular dystrophy type 2D
• autosomal recessive limb-girdle muscular dystrophy type 2E
• autosomal recessive limb-girdle muscular dystrophy type 2F
• autosomal recessive limb-girdle muscular dystrophy type 2G
• autosomal recessive limb-girdle muscular dystrophy type 2H
• autosomal recessive limb-girdle muscular dystrophy type 2I
• autosomal recessive limb-girdle muscular dystrophy type 2J
• autosomal recessive limb-girdle muscular dystrophy type 2K
• autosomal recessive limb-girdle muscular dystrophy type 2L

Resolves to: autosomal recessive limb-girdle muscular dystrophy

Also called

limb-girdle muscular dystrophy, autosomal recessivemuscular dystrophy, limb-girdle, autosomal recessive