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.
MONDO:0000172
muscular dystrophy-dystroglycanopathy, type B
is_a
MDC1D
exact
MDDGB6
exact
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6
exact
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
exact