Description
Down syndrome: 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.
Data source
| FinnGen phenocode |
Q17_DOWN'S_SYNDR |
| Hospital Discharge registry |
ICD-10: Q90 |
| Cause of Death registry |
ICD-10: Q90 |
| Level in the ICD-hierarchy |
3 |
| First defined in version |
DF4 |
Ontology