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Up to: Chromosome 21 disorder
Down syndrome
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.
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Trisomy 21 9 trials · 10 incl. sub-types Sub-types →
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Translocation Down syndrome 2 trials Sub-types →
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Partial segmental duplication 1 trial