aural atresia, congenital
MONDO:0011921Mondo
Findings
No curated finding names aural atresia, congenital yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Atresia of the external auditory canalHPOHP:0000413
- Conductive hearing impairmentHPOHP:0000405
- HyposmiaHPOHP:0004409
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.
- TSHZ1HGNC:10669
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal dominant · 2024
- Limited · Illumina · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · G2P · Autosomal dominant · 2015