How to sign: a disease caused by the presence of two recessive mutant genes on an autosome
Similiar / Same: autosomal recessive disease
Categories: congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder
Within this category: limb-girdle muscular dystrophy, Niemann-Pick disease, Tay-Sachs disease, thrombasthenia, tyrosinemia, Werdnig-Hoffman disease