Term Name: muscular dystrophy-dystroglycanopathy type C8
Synonyms: autosomal recessive limb-girdle muscular dystrophy 24, LGMDR24, muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
Definition: A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1.
Ontology: Human Disease [DOID:0112382]   ( DOID:0112382 )

Relationships
is a type of: autosomal recessive disease muscular dystrophy-dystroglycanopathy