has material basis in germline mutation in LIMS2 autosomal recessive limb-girdle muscular dystrophy type 2W https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/autosomal_recessive_limb_girdle_muscular_dystrophy_type_2w https://www.malacards.org/card/muscular_dystrophy_autosomal_recessive_with_cardiomyopathy_and_triangular_tongue Orphanet:466801 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration. MONDO:0014788 DOID:0110288 LGMD2W UMLS:C4225192 OMIM:616827 muscular dystrophy, limb-girdle, type 2W MEDGEN:897675 LIMS2 autosomal recessive limb-girdle muscular dystrophy muscular dystrophy, limb-girdle, type 2w GARD:0017834 autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2 autosomal recessive limb-girdle muscular dystrophy familial dilated cardiomyopathy