DEAFNESS, AUTOSOMAL DOMINANT 48

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA48
Number of Symptoms 2
OrphanetNr:
OMIM Id: 607841
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:0000407) Sensorineural hearing impairment 12736868 IBIS 524 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Donaudy et al. (2003) screened the MYO1A gene, which maps within the DFNA48 locus, for mutations in patients from the large Italian family reported by D'Adamo et al. (2003) and in an additional 230 hearing-impaired patients. They identified ...