Vi fant 1 definisjoner av autosomal recessive defect på engelsk.
Noun |
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| autosomal recessive defect - a disease caused by the presence of two recessive mutant genes on an autosome | ||
| autosomal recessive disease | ||
| 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 | ||
| 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 | ||