This is a non-core endpoint: only basic statistics are computed.
Congenital malformation syndromes predominantly affecting facial appearance
Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1
No definition available.
Endpoint definition
↥
FinnGen phenotype data
429209 individuals
Apply sex-specific rule None
429209
Check conditions None
429209
Check pre-conditions, main-only, mode, registry filters
2 out of 7 registries used, show all original rules.
82
Check minimum number of events None
82
Include endpoints None
82
Remove individuals based on genotype QC
77
Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1
Control definitions
Controls for this endpoint are individuals that are not cases.
Extra metadata
First used in FinnGen datafreeze
DF7
Show upset plot detailing case counts by codes
Or the full data table
Similar endpoints
↥List of similar endpoints to
Congenital malformation syndromes predominantly affecting facial appearance
based on the number of shared cases.
Broader endpoints:
- Other specified congenital malformation syndromes affecting multiple systems
- Exclusion endpoint for clefts
- Clefts and syndromes for tooth agenesis exclusion, including avohilmo
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
Narrower endpoints:
None
Summary Statistics
↥Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 77 | 45 | 32 |
| Unadjusted prevalence (%) | 0.02 | 0.02 | 0.02 |
| Mean age at first event (years) | 16.06 | 18.53 | 12.59 |
Mortality
Not a core endpoint, no data to show.
Age distribution of first events
Year distribution of first events
Cumulative Incidence
Not a core endpoint, no data to show.
Correlations
↥
Index endpoint: Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1 – Congenital malformation syndromes predominantly affecting facial appearance
GWS hits:
Survival analyses between endpoints
↥Not a core endpoint, no data to show.
Drugs most likely to be purchased after Congenital malformation syndromes predominantly affecting facial appearance
↥Endpoint not on priority list, no data to show.