has material basis in germline mutation in SGCD autosomal recessive limb-girdle muscular dystrophy type 2F https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f https://www.malacards.org/card/autosomal_recessive_limb_girdle_muscular_dystrophy_type_2f https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_recessive_6 autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD GARD:0008573 Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal. DOID:0110280 muscular dystrophy, limb-girdle, type 2F muscular dystrophy limb-girdle with delta-sarcoglyan deficiency Orphanet:219 muscular dystrophy, limb-girdle, autosomal recessive 6 delta-sarcoglycanopathy MONDO:0011028 SGCD autosomal recessive limb-girdle muscular dystrophy MESH:C535896 LGMD2F MEDGEN:331308 limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency UMLS:C1832525 OMIM:601287 SCTID:718177001 limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy qualitative or quantitative defects of delta-sarcoglycan familial dilated cardiomyopathy