DEAFNESS, AUTOSOMAL RECESSIVE 51

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB51
Number of Symptoms 3
OrphanetNr:
OMIM Id: 609941
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:0000407) Sensorineural hearing impairment 524 / 7739
2
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
 (OMIM) Deafness, profound, sensorineural 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shaikh et al. (2005) reported 2 consanguineous Pakistani families with autosomal recessive deafness. All affected individuals exhibited prelingual bilateral profound hearing loss without obvious vestibular or ocular anomalies.