has material basis in germline mutation in POMT1 muscular dystrophy-dystroglycanopathy, type C autosomal recessive limb-girdle muscular dystrophy type 2K https://www.malacards.org/card/muscular_dystrophy_dystroglycanopathy_type_c_1 limb-girdle muscular dystrophy - intellectual disability autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1 MDDGC1 DOID:0110297 OMIM:609308 Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1 LGMD2K MEDGEN:332193 limb-girdle muscular dystrophy-intellectual disability syndrome NCIT:C133730 UMLS:C1836373 LGMD-POMT1 related limb-girdle muscular dystrophy type 2K muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 POMT1 autosomal recessive limb-girdle muscular dystrophy Orphanet:86812 GARD:0012535 MONDO:0012248 SCTID:720523006 autosomal recessive limb-girdle muscular dystrophy qualitative or quantitative defects of protein O-mannosyltransferase 1 myopathy caused by variation in POMT1