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

Osteopetrosis 1

Osteopetrosis 1 [TCIRG1]: Features of the disorder include macrocephaly, progressive deafness and blindness, hepatosplenomegaly, and severe anemia beginning in early infancy. Deafness and blindness are generally thought to represent effects of pressure on nerves – all features are related to abnormal bone formation.

Ashkenazi Jewish Carrier Frequency: 1 inĀ 350

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