hearing loss, autosomal dominant 85
MONDO:0859366Mondo
Findings
No curated finding names hearing loss, autosomal dominant 85 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Congenital onset · Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
2 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.
- Sensorineural hearing impairmentHPOHP:0000407
- 8 of 9 reported patients
- Cochlear nerve hypoplasiaHPOHP:0034585
- 1 of 9 reported patients
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.
- USP48HGNC:18533
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023