hearing loss, autosomal recessive 109
MONDO:0033202Mondo
Findings
No curated finding names hearing loss, autosomal recessive 109 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive 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.
- Abnormal semicircular canal morphologyHPOHP:0011380
- 2 of 2 reported patients
- Congenital sensorineural hearing impairmentHPOHP:0008527
- 2 of 2 reported patients · Congenital onset
- Absent vestibular functionHPOHP:0008555
- 0 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.
- ESRP1HGNC:25966
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of