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Down syndrome

MONDO:0008608

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

Also known as: Down syndrome, Down syndrome, Isolated cases, Down's syndrome, leukemia, megakaryoblastic, with or without Down syndrome, somatic, trisomy 21 (Down syndrome), complete trisomy 21 syndrome, trisomy 21, trisomy 21 syndrome

137 clinical trials for this condition and its sub-types, 135 tagged with Down syndrome itself.

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