An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment. The disease or phenotype is muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 (EFO_0010955, an Experimental Factor Ontology entry). Also known as: Muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related, muscular dystrophy-dystroglycanopathy limb-girdle C12.