| Mendelian (single-gene) disorders |
| Autosomal dominant |
 Achondroplasia |
| Marfan's syndrome |
| Retinoblastoma |
| Neurofibromatosis |
| Huntington's chorea |
| Polycystic kidney disease (adult type) |
| Autosomal recessive |
| Albinism |
| Cystic fibrosis |
| Galactosemia |
| Phenylketonuria |
| Sickle cell anemia |
| Thalassemia |
| Sex-linked dominant |
| Hypophosphatemia |
| Amelogenesis imperfecta |
| Goltz's syndrome |
| Bipolar depressive psychosis |
| Oral-facial-digital syndrome I |
| Sex-linked recessive |
| Color blindness |
| Duchenne's muscular dystrophy |
| G6PD deficiency |
| Hemophilia A and B |
| Fabry's disease |
| Multifactorial disorders |
| Asthma |
| Diabetes mellitus |
| Clubfoot |
| Anencephaly, spina bifida |
| Congenital hip dislocation |
| Pyloric stenosis |
| Cleft lip/palate |
| Schizophrenia |
| Chromosomal aberrations |
| Numerical |
| Down's syndrome (94%) |
| Klinefelter's syndrome (85%) |
| Turner's syndrome (90%) |
| Structural |
| Down's syndrome (3%) |
| Cri du chat syndrome |
| Wolf-Hirschhorn syndrome |
| Mosaicism |
| Down's syndrome (3%) |
| Klinefelter's syndrome (15%) |
| Turner's syndrome (10%) |
