DEAFNESS, AUTOSOMAL DOMINANT 23

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA23
Number of Symptoms 4
OrphanetNr:
OMIM Id: 605192
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:0000405) Conductive hearing impairment Common [HPO:probinson] 10777717 IBIS 164 / 7739
2
(HPO:0000407) Sensorineural hearing impairment 10777717 IBIS 524 / 7739
3
(HPO:0004467) Preauricular pit rare [HPO:skoehler] 39 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Salam et al. (2000) studied DNA samples from 22 members of a Swiss-German kindred in 3 generations: 10 with hearing impairment, 8 unaffected, and 4 spouses of hearing-impaired pedigree members. The hearing-impaired family members had prelingual bilateral symmetric ...
Molecular genetics OMIM In an affected member of the family reported by Salam et al. (2000), Ruf et al. (2004) identified a mutation in the SIX1 gene (601205.0003). The patient was also found to have a solitary left hypodysplastic kidney with ...