Examlex
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Phenylketonuria
A genetic disorder characterized by an inability to metabolize the amino acid phenylalanine, leading to potential brain damage if untreated.
Amino Acid
Organic compounds that serve as the building blocks of proteins, necessary for various bodily functions and processes.
Chromosome Disorder
A genetic condition caused by abnormalities in the number or structure of chromosomes, often leading to developmental issues or health problems.
Down Syndrome
A genetic disorder caused by the presence of all or part of a third copy of chromosome 21, characterized by physical growth delays, characteristic facial features, and intellectual disability.
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