Albinism
Hurler Syndrome
Sickle-cell anemia
Tyrosinemia
Alagille syndrome
Familial hypercholesterolemia
Jacobs syndrome
Phenylketonuria
Edwards syndrome
Thalassemia
Myotonic dystrophy
Galactosemia
Neurofibromatosis
Anhydrotic dysplasia
Color blindness
Down syndrome
Rett syndrome
Ectodermal dysplasia
Marfan syndrome
Fragile X
Lactose intolerance
Smith Lemli Opitz syndrome
Wilson’s disease
Niemann-Pick Disease
Huntington’s disease
Nonobstructive spermatogenic failure
Hemophilia
Duchenne muscular dystrophy
Cystic fibrosis
Hypophosphatemic rickets
Turner syndrome
Hutchinson Gilford Progeria
Kleinfelter syndrome
Philadelphia chromosome
Achondroplasia
Early-onset Alzheimer’s
Tay-Sachs disease
Polycystic kidney disease
Cri du chat syndrome
Patau syndrome
Williams syndrome