DEAFNESS, AUTOSOMAL RECESSIVE 39

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB39
Number of Symptoms 4
OrphanetNr:
OMIM Id: 608265
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:0000399) Prelingual sensorineural hearing impairment 8 / 7739
2
(OMIM) Nonprogressive deafness 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Deafness, sensorineural, prelingual, profound 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wajid et al. (2003) reported a consanguineous Pakistani family in which several members had an autosomal recessive form of profound prelingual sensorineural deafness involving all frequencies. Affected individuals used sign language for communication.

Schultz et al. ...

Molecular genetics OMIM Schultz et al. (2009) sequenced the coding regions of 13 genes within the DFNB39 locus on chromosome 7q11.22-q21.12 in 11 DFNB39 families, but found no missense, nonsense, or frameshift mutations; analysis of the noncoding regions of the genes ...