DEAFNESS, AUTOSOMAL DOMINANT 2B

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA2B
Number of Symptoms 2
OrphanetNr:
OMIM Id: 612644
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0005101) High-frequency hearing impairment 16 / 7739
2
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Xia et al. (1998) reported 2 unrelated Chinese families with autosomal dominant hearing loss. The deafness was characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.
Molecular genetics OMIM In affected members of 2 Chinese families with autosomal dominant hearing loss, Xia et al. (1998) identified heterozygous mutations in the GJB3 gene (603324.0004; 603324.0005).