DEAFNESS, AUTOSOMAL RECESSIVE 89

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB89
Number of Symptoms 3
OrphanetNr:
OMIM Id: 613916
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:0000007) Autosomal recessive inheritance 2538 / 7739
3
(OMIM) Hearing loss (affecting all frequencies), moderate to severe 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Basit et al. (2011) reported 2 unrelated consanguineous Pakistani families with autosomal recessive nonsyndromic moderate to severe hearing loss affecting all frequencies. The onset of deafness was prelingual, and there was no apparent vestibular involvement.

Santos-Cortez ...

Molecular genetics OMIM Santos-Cortez et al. (2013) performed whole-exome sequencing in 1 affected individual from each of 3 consanguineous Pakistani families with nonsyndromic deafness mapping to chromosome 16q21-q23.2, 2 of which had previously been studied by Basit et al. (2011), and ...