DEAFNESS, AUTOSOMAL DOMINANT 13

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA13
Number of Symptoms 3
OrphanetNr:
OMIM Id: 601868
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) Congenital non-progressive, non-syndromic sensorineural hearing loss (greater mid frequency than low- or high-frequency loss) 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brown et al. (1997) described a family with autosomal dominant nonsyndromic postlingual hearing loss. Affected individuals experienced progressive hearing loss beginning in the second to fourth decades, eventually making use of amplification mandatory. The family was of northern ...