Talking Glossary of Genetic Terms

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Francis S. Collins, M.D., Ph.D. defines Birth Defect

Birth Defect

A birth defect is an abnormality present at birth. Also called a congenital defect, it can be caused by a genetic mutation, an unfavorable environment during pregnancy, or a combination of both. The effect of a birth defect can be mild, severe, or incompatible with life.

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