Term Name:	muscular dystrophy-dystroglycanopathy type B6
Synonyms:	congenital muscular dystrophy LARGE-related, congenital muscular dystrophy type 1D, MDC1D, MDDGB6, muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
Definition:	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.
Ontology:	Human Disease [DOID:0110637]   ( DOID:0110637 )