DEAFNESS, AUTOSOMAL DOMINANT 52
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
DFNA52
|
|
Number of Symptoms
|
2
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
607683
|
|
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.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |
Additional Information:
|
Clinical Description
OMIM
|
Xia et al. (2002) described a Chinese pedigree segregating bilateral, postlingual, progressive, and sensorineural nonsyndromic hearing impairment.
|