Muscular dystrophy-dystroglycanopathy type B6

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.

Also known as: MDC1D, MDDGB6, muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6, muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, muscular dystrophy, congenital, large-related, muscular dystrophy, congenital, type 1D

5 clinical trials for this condition and its sub-types, 0 tagged with Muscular dystrophy-dystroglycanopathy type B6 itself.