DEAFNESS, AUTOSOMAL RECESSIVE 1B

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB1B
Number of Symptoms 4
OrphanetNr:
OMIM Id: 612645
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:0001751) Vestibular dysfunction rare [HPO:skoehler] 19 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Hearing loss, profound prelingual sensorineural 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schimmenti et al. (2008) enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed in a study comparing infants with and without connexin-related hearing loss. Among the 82 ...
Molecular genetics OMIM Del Castillo et al. (2002) reported 2 individuals with nonsyndromic deafness mapping to 13q12 who were homozygous for a deletion in the GJB6 gene (604418.0004).

In a patient with sporadic congenital profound deafness, Pallares-Ruiz et al. ...

Population genetics OMIM Schimmenti et al. (2008) enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed in a study comparing infants with and without connexin-related hearing loss. Overall among these ...