Down syndrome
Name: |
Down syndrome
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Description: |
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 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. |
ORPHAcode: |
870
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Synonyms: |
Trisomy 21
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XREF(s): | |
Created: |
24 Jul 2019 - 10:20
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Changed: |
24 Jul 2019 - 10:20
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