Disease association ontology term - MONDO:0013162 - autosomal recessive limb-girdle muscular dystrophy type 2N
Term summary
- ID
- MONDO:0013162
- Name
- autosomal recessive limb-girdle muscular dystrophy type 2N
- Ontology or CV name
- Disease association
- Definition
- Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.
