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autosomal recessive defectautosomal recessive diseasecongenital diseasegenetic abnormalitygenetic defectgenetic diseasegenetic disorderhereditary conditionhereditary diseaseinherited diseaseinherited disorderlimb-girdle muscular dystrophyNiemann-Pick diseaseinfantile amaurotic idiocySachs diseaseTay-SachsTay-Sachs diseasethrombastheniatyrosinemiaWerdnig-Hoffman disease

autosomal recessive defect

noun

1 autosomal recessive defect

A disease caused by the presence of two recessive mutant genes on an autosome.

synonym: autosomal recessive disease.

is a specific kind of: congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder.

is a broader term that covers: limb-girdle muscular dystrophy | Niemann-Pick disease | infantile amaurotic idiocy, Sachs disease, Tay-Sachs, Tay-Sachs disease | thrombasthenia | tyrosinemia | Werdnig-Hoffman disease.

Find more on autosomal recessive defect elsewhere: etymology - rhymes - Wikipedia.

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