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

Fragile X Syndrome

X-linked condition. Features include mental retardation, behavioral problems (autistic-like features, etc.), and characteristic facial features in affected males. Affected females may also have milder clinical manifestations. Premutation carrier females are at increased risk for premature ovarian insufficiency; whereas premutation carrier males are at increased risk for Fragile X-associated tremor/ataxia syndrome.

Carrier Frequency: 1 in 115 Ashkenazi Jews

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