muscular dystrophy-dystroglycanopathy type B5
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
MONDO:0000172
muscular dystrophy-dystroglycanopathy, type B
is_a
MONDO:0700066
myopathy caused by variation in FKRP
is_a
MDC1C
exact
MDDGB5
exact
congenital muscular dystrophy-FKRP related
exact
muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5
exact
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
exact