has material basis in germline mutation in POMK muscular dystrophy-dystroglycanopathy, type C limb-girdle muscular dystrophy due to POMK deficiency https://www.malacards.org/card/muscular_dystrophy_dystroglycanopathy_type_c_12 MEDGEN:863621 GARD:0017769 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 MDDGC12 Orphanet:445110 LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. MONDO:0014489 DOID:0112381 UMLS:C4015184 OMIM:616094 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related autosomal recessive limb-girdle muscular dystrophy qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan