From: Individualized medicine enabled by genomics in Saudi Arabia
Type | Disease | Disease prevalence* (%) | Consanguinity | References |
---|---|---|---|---|
Chromosomal | Down syndrome | 1.8 | ND | [172] |
 | Congenital Malformations or birth defects | 2- 3 | ++ | |
Polygenic and/or multifactorial | Congenital heart disease (CHD) | 5.4-10.7 | + | |
 | Cystic fibrosis | 0.24 | ++ | [176] |
 | Duchene muscular dystrophy (DMD) | 0.025 | + | [177] |
 | Hereditary Recessive deafness | 130 | ++ | |
 | Hereditary blindness & visual impairment | 90 | ++ | |
 | Diabetes mellitus | 110 to 237 | ND | |
 | Thalassemia | 0.5 to 2.6 | ++ | |
Monogenic | Sickle Cell Disease (SCD) | 9 to 14.5 | ++ | |
 | G6PD deficiency | 7.7 to 20 | ++ |