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

Diseases Common to all Jewish Groups

Ashkenazi Jewish Diseases

Sephardic-Mizrahi Diseases

Joubert Syndrome 2

Joubert Syndrome Type 2 [TMEM216]: Neurological disorder associated with a specific brain malformation, developmental delay, mental retardation, breathing difficulties, ataxia, failure to thrive, retinal degeneration and renal dysfunction.

Ashkenazi Jewish Carrier Frequency: 1 in 110

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