DEAFNESS, AUTOSOMAL RECESSIVE 18A

General Information (adopted from Orphanet):

Synonyms, Signs: DEAFNESS, AUTOSOMAL RECESSIVE 18
DFNB18
DFNB18A
Number of Symptoms 3
OrphanetNr:
OMIM Id: 602092
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:0000407) Sensorineural hearing impairment 524 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
(OMIM) Nonsyndromic sensorineural hearing loss 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jain et al. (1997, 1998) reported a large consanguineous Indian family in which several members had profound, prelingual, nonsyndromic sensorineural deafness. Vestibular function and visual function were normal.
Molecular genetics OMIM Verpy et al. (2000) identified a PDZ-domain-containing gene on 11p15.1-p14, mutations in which are responsible for USH1C. They proposed that the USH1C gene underlies the DFNB18 form of isolated deafness also. They suggested that the fact that several ...