has material basis in germline mutation in DAG1 muscular dystrophy-dystroglycanopathy, type C autosomal recessive limb-girdle muscular dystrophy type 2P https://www.malacards.org/card/muscular_dystrophy_dystroglycanopathy_type_c_9 DAG1 autosomal recessive limb-girdle muscular dystrophy muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles. Orphanet:280333 limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1 UMLS:C4511963 OMIM:613818 MEDGEN:1386785 GARD:0012541 MDDGC9 MONDO:0013440 DOID:0110293 LGMD2P autosomal recessive limb-girdle muscular dystrophy congenital disorder of glycosylation