has material basis in germline mutation in TOR1AIP1 congenital nervous system disorder autosomal recessive limb-girdle muscular dystrophy type 2Y https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/myopathy_autosomal_recessive_with_rigid_spine_and_distal_joint_contractures GARD:0017708 NCIT:C181000 muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures SCTID:725907002 muscular dystrophy with progressive weakness, distal contractures and rigid spine UMLS:C4511482 OMIM:617072 autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1 LGMD2Y Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy. MONDO:0014900 autosomal recessive muscular dystrophy due to LAP1B deficiency MEDGEN:1385152 autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy Orphanet:424261 DOID:0110289 autosomal recessive limb-girdle muscular dystrophy TOR1AIP1-related myopathy