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
Familial Dysautonomia (FD)
In individuals with Familial Dysautonomia, the autonomic and sensory nervous systems malfunction. Symptoms vary, and may include insensitivity to pain, unstable blood pressure and body temperature, absence of overflow tears, frequent pneumonia, and poor growth. Shortened life expectancy. Cognitive Impairment. Physical impairment.
