autosomal recessive nonsyndromic hearing loss 102
MONDO:0014428Mondo
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 102 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.
Definition from the Mondo Disease Ontology (MONDO:0014428), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Profound hearing impairmentHPOHP:0012715
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.
- EPS8HGNC:3420
- Definitive · LiferaOmics · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · ClinGen · Autosomal recessive · 2020
Where it sits
- A kind of