OSSICULAR MALFORMATIONS, FAMILIAL
General Information (adopted from Orphanet):
Synonyms, Signs:
|
|
Number of Symptoms
|
5
|
OrphanetNr:
|
|
OMIM Id:
|
165680
|
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:0004452)
|
Abnormality of the middle ear ossicles |
|
|
|
|
26 / 7739
|
2
|
(HPO:0008591)
|
Congenital conductive hearing impairment |
|
|
|
|
8 / 7739
|
3
|
(OMIM)
|
Stapes fixation |
|
|
|
|
6 / 7739
|
4
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
5
|
(OMIM)
|
Incudostapedial disconnection |
|
|
|
|
1 / 7739
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |