Ashkenazi Jewish Genetic Diseases
- Bloom’s Syndrome (BS)
- Canavan Disease
- Cystic Fibrosis (CF)
- Familial Dysautonomia (FD)
- Familial Hyperinsulinism
- Fanconi Anemia Type C
- Gaucher Disease Type 1
- Glycogen Storage Disorder Type 1A (GSD 1A)
- Joubert Syndrome Type 2
- Lipoamide Dehydrogenase Deficiency (E3)
- Maple Syrup Urine Disease (MSUD)
- Mucolipidosis Type 4 (ML4)
- Nemaline Myopathy
- Niemann-Pick Disease Type A
- Spinal Muscular Atrophy (SMA)
- Tay-Sachs Disease
- Usher Syndrome Type 3
- Usher Syndrome Type I
- Walker Warburg Syndrome (WWS)
Sephardic/Mizrahi Jewish Genetic Diseases
- Alpha-Thalassemia
- Ataxia Telangiectasia
- Beta-Thalassemia
- Corticosterone Methyloxidase Type II Deficiency
- Costeff Optical Atrophy
- Cystic Fibrosis (CF)
- Familial Creutzfeldt-Jakob Disease
- Familial Mediterranean Fever
- Familial Tumoral Calcinosis (Normophosphatemic Type)
- Glucose-6-Phosphate Dehydogenase Deficiency (G6PD)
- Inclusion Body Myopathy 2
- Limb Girdle Muscular Dystrophy Type 2B
- Metachromatic Leukodystrophy (MLD)
- Polyglandular Deficiency Syndrome
- Pseudocholinesterase Deficiency
- Spinal Muscular Atrophy (SMA)
- Wolman Disease
Usher Syndrome Type I
Usher Syndrome Type I is associated with deafness and progressive blindness. Children are profoundly deaf and have severe balance problems. Physical impairment.
