DEAFNESS, AUTOSOMAL DOMINANT 50

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA50
Number of Symptoms 3
OrphanetNr:
OMIM Id: 613074
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:0001730) Progressive hearing impairment 19363479 IBIS 29 / 7739
2
(HPO:0000407) Sensorineural hearing impairment 19363479 IBIS 524 / 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 Modamio-Hoybjor et al. (2004) identified a large Spanish family postlingual, progressive, nonsyndromic all-frequency hearing loss inherited in an autosomal dominant pattern. Of 74 family members, 37 were affected. The earliest clinical evidence of hearing loss in the family ...
Molecular genetics OMIM In 2 families with autosomal dominant nonsyndromic hearing loss, Mencia et al. (2009) identified 2 independent point mutations in the seed region of MIRN96 (611606) as the cause of the disorder. This was the first study to implicate ...