DEAFNESS, AUTOSOMAL RECESSIVE 84B

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB84B
Number of Symptoms 4
OrphanetNr:
OMIM Id: 614944
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:0001756) Vestibular hypofunction rare [HPO:skoehler] 3 / 7739
3
(OMIM) Deafness, congenital nonprogressive sensorineural symmetric, moderate 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Yariz et al. (2012) studied 3 brothers and a sister, born of consanguineous parents, who had symmetric moderate sensorineural hearing loss with no evidence of progression on available audiograms. Clinical examinations did not reveal additional findings, and CT ...
Molecular genetics OMIM In 4 sibs from a consanguineous family with nonsyndromic nonprogressive sensorineural hearing loss mapping to chromosome 12, Yariz et al. (2012) performed Sanger sequencing of the PTPRQ gene (603317) but identified no mutation. Whole-exome sequencing of 1 affected ...