DEAFNESS, AUTOSOMAL RECESSIVE 7

General Information (adopted from Orphanet):

Synonyms, Signs: DEAFNESS, AUTOSOMAL RECESSIVE 11
DFNB11
DFNB7
Number of Symptoms 3
OrphanetNr:
OMIM Id: 600974
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) Neurosensory nonsyndromic hearing impairment. 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Kurima et al. (2002) used positional cloning to identify the TMC1 gene (606706) as the site of mutations causing autosomal recessive deafness that maps to 9q13-q21.

Kitajiri et al. (2007) identified mutations in the TMC1 gene ...