Sephardic/Mizrachi Jewish Genetic Diseases (38)

• Acute Infantile Liver Failure (TRMU)

• Adrenoleukodystrophy, X-Linked (ABCD1) 

• Asparagine Synthetase Deficiency (ASNS)

• Ataxia-Telangiectasia (ATM)

• Beta-Globin-Related Hemoglobinopathies (HBB)

• Cerebrotendinous Xanthomatosis (CYP27A1)

• Chronic Granulomatous Disease (CYBA)

• Congenital Insensitivity to Pain with Anhidrosis (NTRK1)

• Congenital Myasthenic Syndrome (RAPSN)

• Corticosterone Methyloxidase Deficiency (CYP11B2)

• Cystinosis (CTNS) 

• Fanconi Anemia, Group A (FANCA)

• Glycogen Storage Disease Type III (AGL)

• Glycogen Storage Disease Type V (PYGM)

• Hereditary Spastic Paraparesis, Type 49 (TECPR2)

• Homocystinuria due to MTHFR Deficiency (MTHFR)

• Inclusion Body Myopathy 2 (GNE)

• Infantile Cerebral and Cerebellar Atrophy (MED17)

• Leber Congenital Amaurosis 2, Retinitis Pigmentosa 20 (RPE65) 

• Limb Girdle Muscular Dystrophy Type 2B (DYSF)

• Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1)

• Metachromatic Leukodystrophy (ARSA)

• 3-Methylglutaconic Aciduria, Type III / Optic Atrophy3, with Cataract (OPA3)

• Microphthalmia / Anophthalmia (VSX2) 

• Mitochondrial Complex I Deficiency (NDUFS6)

• Mitochondrial Myopathy and Sideroblastic Anemia 1 (PUS1)

• Myoneurogastrointestinal Encephalopathy (TYMP)

• Omenn Syndrome (RAG2)

• Ornithine Aminotransferase Deficiency (OAT)

• Polyglandular Autoimmune Syndrome Type 1 (AIRE)

• Pontocerebellar Hypoplasia, Type 6 (RARS2)

• Progressive Cerebello-Cerebral Atrophy (SEPSECS)

• Renal Tubular Acidosis and Deafness (ATP6V1B1)

• Retinitis Pigmentosa 25 (EYS)

• Retinitis Pigmentosa 26 (CERKL)

• Usher Syndrome Type IIA (USH2A)

• Wolman Disease / Cholesteryl Ester Storage Disease (LIPA) 

• Zellweger Syndrome Spectrum (PEX6)