has material basis in germline mutation in ANO5 autosomal recessive limb-girdle muscular dystrophy type 2L https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/autosomal_recessive_limb_girdle_muscular_dystrophy_type_2l https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_recessive_12 muscular dystrophy, limb-girdle, autosomal recessive 12 UMLS:C1969785 A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. muscular dystrophy, limb-girdle, type 2L DOID:0110284 ANO5 autosomal recessive limb-girdle muscular dystrophy OMIM:611307 LGMD2L MEDGEN:370102 Orphanet:206549 GARD:0012536 MONDO:0012652 MESH:C566968 limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5 autosomal recessive limb-girdle muscular dystrophy