DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
DFNA39/DGI1 SYNDROME
DFNA39/DENTINOGENESIS IMPERFECTA 1 SYNDROME
DGI1/DFNA39 SYNDROME
|
|
Number of Symptoms
|
5
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
605594
|
|
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:0000703)
|
Dentinogenesis imperfecta |
|
|
|
|
18 / 7739
|
|
2
|
(HPO:0000360)
|
Tinnitus |
|
|
|
|
29 / 7739
|
|
3
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
|
|
23 / 7739
|
|
4
|
(HPO:0005101)
|
High-frequency hearing impairment |
|
|
|
|
16 / 7739
|
|
5
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |