hearing loss, autosomal dominant 80
MONDO:0030998Mondo
Findings
No curated finding names hearing loss, autosomal dominant 80 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
- Congenital 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.
- Abnormal semicircular canal morphologyHPOHP:0011380
- 2 of 2 reported patients
- Cochlear aplasiaHPOHP:0011375
- 2 of 2 reported patients
- Congenital sensorineural hearing impairmentHPOHP:0008527
- 2 of 2 reported patients
- Dilated vestibule of the inner earHPOHP:0011379
- 2 of 2 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.
- GREB1LHGNC:31042
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022