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Bowen-Conradi syndrome

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

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Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Babies with Bowen-Conradi syndrome do not achieve developmental milestones such as smiling or sitting, and they usually do not survive more than 6 months. Bowen-Conradi syndrome is primarily observed in Hutterite families, caused by inheritance of two copies of the "D86G" mutation (rs74435397).GHR