label: muscular dystrophy-dystroglycanopathy type B5
label_lc: muscular dystrophy-dystroglycanopathy type b5
description: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3."