autosomal recessive defect


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Noun1.autosomal recessive defect - a disease caused by the presence of two recessive mutant genes on an autosomeautosomal recessive defect - a disease caused by the presence of two recessive mutant genes on an autosome
limb-girdle muscular dystrophy - an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages
Niemann-Pick disease - a disorder of lipid metabolism that is inherited as an autosomal recessive trait
infantile amaurotic idiocy, Sachs disease, Tay-Sachs, Tay-Sachs disease - a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
thrombasthenia - a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results
tyrosinemia - autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
Werdnig-Hoffman disease - autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis; death usually occurs in early childhood
References in periodicals archive ?
Other members of her family were screened for Wilson's disease because it is an autosomal recessive defect in ATP-dependent copper transporter.
So far several autosomal recessive defects have been identified in dairy cattle and reported for dairy cattle breeders such asFactor XI (Kociba et al.

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