An alliance of individuals and organizations working together to prevent Jewish Genetic Diseases through education, awareness and screening

Ashkenazi Jewish Genetic Diseases: 19 Disease Panel

Ashkenazi Jewish Genetic Diseases: 38 Disease Panel

Sephardic/Mizrahi Jewish Genetic Diseases

Congenital Disorder of Glycosylation la

Hypotonia, abnormal fat distribution, strabismus, developmental delay and failure to thrive appear in infancy. Other symptoms include elevated liver function tests, seizures, and pericardial effusion that could lead to death under 1 year of life due to multiple organ failure. Affected individuals who survive infancy may have intellectual disability, lethargy, temporary paralysis, neuropathy, kyphoscoliosis, ataxia, contractures and retinitis pigmentosa.

Carrier Frequency: 1 in 57 Ashkenazi Jews

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