Re: Belgium’s FM calls for immediate implementation of ICJ ruling

38 Ashkenazi Genetic Diseases.

This list is many years old and because every year they identify brand new Ashkenazi genetic diseases, the list must be much larger than 38 today. What you see in parenthesis is the carrier rate. The link below is pretty good but it is listening only about 20 of the diseases.

https://www.bmc.oRg/genetic-services/jewish-genetic-disease-screening

1. Bloom Syndrome (1/134)
2. Canavan Disease (1/55)
3. Cystic Fibrosis (1/24)
4. Familial Dysautonomia (1/31)
5. Familial Hyperinsulinism (1/68)
6. Fanconi Anemia C (1/100)
7. Gaucher Disease (1/15)
8. Glycogen Storage Disease 1A (1/64)
9. Joubert Syndrome 2 (1/110)
10. Lipoamide Dehydrogenase Deficiency (E3) (1/107)
11. Maple Syrup Urine Disease 1B (1/97)
12. Mucolipidosis IV (1/89)
13. Nemaline Myopathy (1/168)
14. Niemann-Pick Disease (1/115)
15. Spinal Muscular Atrophy (1/41)
16. Tay-Sachs Disease (1/27)
17. Usher IF (1/147)
18. Usher III (1/120)
19. Walker Warburg (1/120)
20. 3-Phosphoglycerate Dehydrogenase Deficiency (1/280)
21. Abetalipoproteinemia (1/180)
22. Alport Syndrome, Autosomal Recessive (1/188)
23. Arthrogryposis, Mental Retardation and Seizures (1/373)
24. Bardet-Biedl Syndrome (1/107)
25. Carnitine Palmitoyltransferase ll Deficiency (1/51)
26. Congenital Amegakaryocytic Thrombocytopenia (1/55)
27. Congenital Disorder of Glycosylation la (1/57)
28. Dyskeratosis Congenita, Autosomal Recessive (1/203)
29. Ehlers-Danlos VllC (1/248)
30. Fragile X Syndrome (1/115)
31. Galactosemia (1/172)
32. Multiple Sulphatase Deficiency (1/320)
33. Polycystic Kidney Disease, Autosomal Recessive (1/107)
34. Retinitis Pigmentosa 59 (1/118)
35. Smith-Lemli-Opitz Syndrome (1/36)
36. Tyrosinemia l (1/150)
37. Wilson Disease (1/70)
38. Zellweger Syndrome (1/172)

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