OTOSCLEROSIS 3

General Information (adopted from Orphanet):

Synonyms, Signs: OTSC3
Number of Symptoms 5
OrphanetNr:
OMIM Id: 608244
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: Sort by abundance 

1
(HPO:0000365) Hearing impairment 539 / 7739
2
(HPO:0000362) Otosclerosis 10 / 7739
3
(OMIM) Hearing loss, unilateral or bilateral, conductive , sensorineural, or mixed 2 / 7739
4
(HPO:0003829) Incomplete penetrance 85 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: