has material basis in germline mutation in GMPPB muscular dystrophy-dystroglycanopathy, type C autosomal recessive limb-girdle muscular dystrophy type 2T https://www.malacards.org/card/muscular_dystrophy_dystroglycanopathy_type_c_14 GMPPB autosomal recessive limb-girdle muscular dystrophy muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 UMLS:C4518000 GARD:0012544 MONDO:0014142 Orphanet:363623 MEDGEN:1377325 Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. MDDGC14 LGMD-GMPPB related autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB limb-girdle muscular dystrophy type 2T DOID:0110294 LGMD2T autosomal recessive limb-girdle muscular dystrophy myopathy caused by variation in GMPPB