otosclerosis 11
MONDO:0957928Mondo
Findings
No curated finding names otosclerosis 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Conductive hearing impairmentHPOHP:0000405
- 5 of 8 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 4 of 8 reported patients
- Absence of acoustic reflexHPOHP:0008529
- OtosclerosisHPOHP:0000362
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FOXL1HGNC:3817
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of