autosomal recessive disease

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

a disorder of lipid metabolism that is inherited as an autosomal recessive trait

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

a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results

autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation

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