OTOSCLEROSIS 4

General Information (adopted from Orphanet):

Synonyms, Signs: OTSC4
Number of Symptoms 4
OrphanetNr:
OMIM Id: 611571
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:0000362) Otosclerosis 10 / 7739
2
(HPO:0000410) Mixed hearing impairment 22 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Hearing loss, unilateral or bilateral, conductive or mixed conductive/sensorineural 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brownstein et al. (2006) examined 12 affected and 12 unaffected members of a 5-generation Israeli family with otosclerosis. All of the otosclerotic members of the family experienced progressive hearing loss, beginning late in the third decade to the ...