muscular dystrophy-dystroglycanopathy type C8 (DOID:0112382)
Alliance: disease page
Synonyms: autosomal recessive limb-girdle muscular dystrophy 24; LGMDR24; MDDGC2; muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8; muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
Alt IDs: OMIM:618135
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.