has material basis in germline mutation in TRAPPC11 autosomal recessive limb-girdle muscular dystrophy type R18 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_recessive_18 TRAPPC11 autosomal recessive limb-girdle muscular dystrophy A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures. Orphanet:369840 muscular dystrophy, limb-girdle, autosomal recessive 18 autosomal recessive limb-girdle muscular dystrophy type 2S MEDGEN:1385598 autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11 DOID:0110287 GARD:0012543 UMLS:C4517996 LGMD2S MONDO:0014144 limb-girdle muscular dystrophy type 2S muscular dystrophy, limb-girdle, type 2S OMIM:615356 autosomal recessive limb-girdle muscular dystrophy intellectual disability-hyperkinetic movement-truncal ataxia syndrome