Definitions of autosomal recessive defect
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a disease caused by the presence of two recessive mutant genes on an autosome
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synonyms:
autosomal recessive disease
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types:
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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
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Niemann-Pick disease
a disorder of lipid metabolism that is inherited as an autosomal recessive trait
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Sachs disease, Tay-Sachs, Tay-Sachs disease, infantile amaurotic idiocy
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
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thrombasthenia
a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results
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tyrosinemia
autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
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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
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type of:
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congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder
a disease or disorder that is inherited genetically
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