autosomal dominant nonsyndromic hearing loss 2B
MONDO:0012976Mondo
Findings
No curated finding names autosomal dominant nonsyndromic hearing loss 2B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.
Definition from the Mondo Disease Ontology (MONDO:0012976), 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.
- GJB3HGNC:4285
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020