autosomal recessive defect

Definitions of autosomal recessive defect

1. noun

   a disease caused by the presence of two recessive mutant genes on an autosome
   synonyms: autosomal recessive disease

   types:

   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

   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

   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

   type of:

   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