Glossary

Inherited/hereditary condition: Disease passed from parents to offspring

Developmental defect: Disorder that is caused by improper development of organs or tissues of the fetus during pregnancy. These may also present at birth but are not inherited

Screening: Testing for a disease before symptoms become evident to make an early diagnosis so that early treatment can be initiated

Enzyme: A protein that is necessary for many important metabolic processes in the body. Inherited enzyme deficiency can cause disease

Congenital: Occurring at birth

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