has material basis in germline mutation in LARGE1 muscular dystrophy-dystroglycanopathy, type B muscular dystrophy-dystroglycanopathy type B6 https://www.malacards.org/card/muscular_dystrophy_dystroglycanopathy_congenital_with_mental_retardation_type_b_6 MONDO:0012138 MDC1D MDDGB6 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6 DOID:0110637 Orphanet:98894 MEDGEN:373284 MESH:C563844 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 UMLS:C1837229 OMIM:608840 GARD:0024846 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.