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Down syndrome
rareDown 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.
- Identifiers
- MONDO:0008608 OMIM:190685Orphanet:870
- Part of
- Chromosome 21 disorder
- Also known as
- Down syndrome, Isolated cases · Down's syndrome · leukemia, megakaryoblastic, with or without Down syndrome, somatic · trisomy 21 (Down syndrome)
Subtypes
Disease Rare Not rare Subtypes
Projects
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