autosomal recessive nonsyndromic hearing loss 36
MONDO:0012170Mondo
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 36 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 ESPN gene.
Definition from the Mondo Disease Ontology (MONDO:0012170), read 2026-09-29. CC BY 4.0.
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.
- ESPNHGNC:13281
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: autosomal recessive nonsyndromic hearing loss 36
- Also called
- deafness, neurosensory, without vestibular involvement, autosomal dominant