DEAFNESS, AUTOSOMAL RECESSIVE 91

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB91
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613453
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive 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 29 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sirmaci et al. (2010) reported a consanguineous Turkish family with nonsyndromic progressive hearing loss. Although the precise age of onset could not be ascertained, the youngest affected individual, who was 23 years old, reported loss of hearing after ...
Molecular genetics OMIM By genomewide linkage analysis followed by candidate gene sequencing in affected members of a consanguineous Turkish family with nonsyndromic progressive hearing loss, Sirmaci et al. (2010) identified a homozygous truncating mutation in the SERPINB6 gene (E245X; 173321.0001), resulting ...