autosomal recessive defect au·to·so·malrecessivedefect uncommon noun 1. a disease caused by the presence of two recessive mutant genes on an autosome Synonymsautosomal recessive diseaseautosomal recessive defect Related words Broader terms genetic disease Narrower terms limb-girdle muscular dystrophyNiemann-Pick diseaseTay-Sachs diseasethrombastheniatyrosinemiaWerdnig-Hoffman disease WordNet 2.1 (Princeton University). WordNet 2.1 Copyright Princeton University. All rights reserved.