| Disease name | Inheritance pattern; births frequency | Gene mutated; protein product | Clinical phenotype |
|---|---|---|---|
| Familial hypercholesterolemia | Autosomal codominant; 1 in 500 heterozygous | LDLR; lo | High blood cholesterol, heart disease |
| Cystic fibrosis | Autosomal recessive; 1 in 4,000 | CFTR; chloride ion channel in membrane | Immune, digestive, and respiratory illness |
| Duchenne muscular dystrophy | Se 1 in 3,500 males | DMD; the muscle membrane protein dystrophin | Muscle weakness |
| Hemophilia A | Se 1 in 5,000 males | HEMA; factor VIII blood clotting protein | Inability to clot blood after injury, hemorrhage |