Congenital malformations of eye, ear, face and neck
Description
No definition available.
Data source
| FinnGen phenocode | Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK |
| Include | Q17_CONGEN_MALFO_EYELID_LACRIMAL_APPARA_ORBIT, Q17_ANOPH_MICROPHT_MACROP, Q17_CONGEN_LENS_MALFO, Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE, Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE, Q17_OTHER_CONGEN_MALFO_EYE, Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING, Q17_OTHER_CONGEN_MALFO_EAR, Q17_OTHER_CONGEN_MALFO_FACE_NECK |
| Level in the ICD-hierarchy | 2 |
| First defined in version | DF4 |
Ontology
| MESH | D000013 |
Key figures
| Sex | All | Female | Male |
| Number of individuals | 772 | 487 | 285 |
| Unadjusted prevalence (%) | 0.44 | 0.49 | 0.38 |
| Mean age at first event (years) | 33.48 | 32.28 | 35.53 |
| Case fatality at 5-years (%) | 0.65 | 0.0 | 1.75 |
Heritability
| SNP-h2 liability | CI |
| 0.24 | [0.03, 0.45] |
Longitudinal metrics
| Sex | All | Female | Male |
| Median nb. of events per indiv. | 1 | 1 | 1 |
| Recurrence at 6 months (%) | 35.36 | 32.03 | 41.05 |
Associations
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