autosomal recessive limb-girdle muscular dystrophy type 2Y (DOID:0110289)
Alliance: disease page
Synonyms: autosomal recessive muscular dystrophy due to LAP1B deficiency; autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency; LGMD2Y; muscular dystrophy with progressive weakness, distal contractures and rigid spine; muscular dystrophy, limb-girdle, type 2Y
Alt IDs: OMIM:617072, ICD10CM:G71.0, ORDO:424261
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.