DEAFNESS, AUTOSOMAL DOMINANT 3A

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA3A
Number of Symptoms 3
OrphanetNr:
OMIM Id: 601544
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:0000407) Sensorineural hearing impairment 524 / 7739
2
(OMIM) Nonsyndromic neurosensory deafness 2 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Kelsell et al. (1997) identified a mutation in the GJB2 gene (M34T; 121011.0001) in affected members of a pedigree segregating autosomal dominant deafness. They also identified mutations in the GJB2 gene in 3 autosomal recessive nonsyndromic sensorineural deafness ...