DEAFNESS, AUTOSOMAL DOMINANT 4B
General Information (adopted from Orphanet):
Synonyms, Signs: |
DFNA4B |
Number of Symptoms | 3 |
OrphanetNr: | |
OMIM Id: |
614614
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
(OMIM) | Sensorineural hearing loss, progressive bilateral postlingual | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Clinical Description OMIM |
Chen et al. (1995) identified a form of autosomal dominant nonsyndromic deafness in members of a large multigenerational family in which fluctuating, though inexorably progressive, sensorineural hearing loss began in the second decade and led to severe to ... |
Molecular genetics OMIM |
In affected members of an American family segregating autosomal dominant deafness mapping to chromosome 19q12-q13.4, originally reported by Chen et al. (1995) (family 1070) and known to be negative for mutation in the MYH14 gene (608568), Zheng et ... |