Human genes for muscular dystrophy-dystroglycanopathy type B6
Muscular dystrophy-dystroglycanopathy type B6 [DOID:0110637]
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.
Synonyms: muscular dystrophy-dystroglycanopathy type B6, DOID:0110637, muscular dystrophydystroglycanopathy type B6, congenital muscular dystrophy LARGE-related, congenital muscular dystrophy type 1D ...