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

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