DEAFNESS, AUTOSOMAL RECESSIVE 96

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB96
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614414
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:0000365) Hearing impairment 539 / 7739
2
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
 (OMIM) Hearing loss, severe to profound, affecting all frequencies 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive deafness-96 (DFNB96) is a form of nonsyndromic sensorineural severe to profound hearing impairment with prelingual onset (summary by Ansar et al., 2011).
Clinical Description OMIM Ansar et al. (2011) reported a consanguineous Pakistani family in which 4 individuals had prelingual onset of severe to profound nonsyndromic deafness affecting all frequencies.