DEAFNESS, AUTOSOMAL RECESSIVE 48

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB48
Number of Symptoms 5
OrphanetNr:
OMIM Id: 609439
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:0001751) Vestibular dysfunction 18505454 IBIS 19 / 7739
2
 (HPO:0011476) Profound sensorineural hearing impairment 7 / 7739
3
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
 (OMIM) Hearing loss affects all frequencies 2 / 7739
5
 (OMIM) Hearing loss, congenital profound 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by Riazuddin et al., 2012).
Molecular genetics OMIM In affected members of 54 Pakistani families with autosomal recessive deafness-48, Riazuddin et al. (2012) identified a homozygous mutation in the CIB2 gene (F91S; 605564.0001). Haplotype analysis indicated a founder effect. Two additional homozygous CIB2 mutations were found ...
Population genetics OMIM Riazuddin et al. (2012) estimated that CIB2 mutations may account for up to 7.25% of Pakistani families with autosomal recessive deafness.