DEAFNESS, AUTOSOMAL RECESSIVE 65

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB65
Number of Symptoms 5
OrphanetNr:
OMIM Id: 610248
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

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) Deafness, profound 4 / 7739
4
 (OMIM) Deafness affects all frequencies 1 / 7739
5
 (HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tariq et al. (2006) reported a consanguineous family from a region bordering Pakistan and India in which 4 sibs had nonsyndromic, prelingual profound hearing impairment involving all frequencies.
Molecular genetics OMIM - Exclusion Studies

Tariq et al. (2006) excluded mutation in the BMP7 gene (112267) in affected members of a family with deafness mapping to chromosome 20q13.2-q13.32.