autosomal recessive defect

Noun autosomal recessive defect has 1 sense

• autosomal recessive defect(n = noun.state) autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome;
is a kind of congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder
has particulars: limb-girdle muscular dystrophy, niemann-pick disease, infantile amaurotic idiocy, sachs disease, tay-sachs, tay-sachs disease, thrombasthenia, tyrosinemia, werdnig-hoffman disease