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 )

Relationships
is a type of: autosomal recessive limb-girdle muscular dystrophy