| Term Name: | autosomal recessive limb-girdle muscular dystrophy type 27 |
|---|---|
| Synonyms: | LGMDR27 |
| Definition: | An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32. |
| Ontology: | Human Disease [DOID:0061133] ( DOID:0061133 ) |