A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. (Human Disease Ontology, DOID_14250)
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Genes
6 genes associated with the disease down syndrome; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
