label: muscular dystrophy-dystroglycanopathy type B6
label_lc: muscular dystrophy-dystroglycanopathy type b6
description: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12."