has material basis in germline mutation in POMGNT1 muscular dystrophy-dystroglycanopathy, type C autosomal recessive limb-girdle muscular dystrophy type 2O https://www.malacards.org/card/muscular_dystrophy_dystroglycanopathy_type_c_3 OMIM:613157 Orphanet:206564 GARD:0012540 The ClinGen working group (https://clinicalgenome.org/affiliation/40151/) noted that 'autosomal recessive limb-girdle muscular dystrophy type 2O' does not have significant associations with POMGNT1. A publication is in preparation. POMGNT1 autosomal recessive limb-girdle muscular dystrophy limb-girdle muscular dystrophy type 2O LGMD2O autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1 DOID:0110292 Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia. muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MONDO:0013161 MEDGEN:461767 MDDGC3 LGMD-POMGNT1 related UMLS:C3150417 autosomal recessive limb-girdle muscular dystrophy myopathy caused by variation in POMGNT1