/muscular dystrophy-dystroglycanopathy type B5

muscular dystrophy-dystroglycanopathy type B5

Rare Disease

MONDO:0011688

Also Known As

FKRP-related congenital muscular dystrophyMDC1CMDDGB5congenital muscular dystrophy 1Ccongenital muscular dystrophy-FKRP relatedmuscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5muscular dystrophy, congenital, 1Cmuscular dystrophy, congenital, FKRP-related

Definition

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.