Muscular dystrophy-dystroglycanopathy type B6
Muscular dystrophy-dystroglycanopathy type B6
Definition
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 — per MONDO