muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.
MONDO:0000172
muscular dystrophy-dystroglycanopathy, type B
is_a
MONDO:0700071
myopathy caused by variation in POMT2
is_a
MDDGB2
related
congenital muscular dystrophy-POMT2 related
exact
congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2
exact
congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2
exact
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2
related
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
related
SPAC22A12.07c SPAPB1E7.09