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.
Comprehensive, easy-to-understand information about this condition
Checking for content...
muscular dystrophy-dystroglycanopathy type B5
MONDO:0011688
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
MONDO:0013155
muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
MONDO:0013156
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
MONDO:0013159
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
MONDO:0013160
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
MONDO:0014141