DEAFNESS, AUTOSOMAL DOMINANT 4A

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA4A
DEAFNESS, AUTOSOMAL DOMINANT 4
DFNA4
Number of Symptoms 2
OrphanetNr:
OMIM Id: 600652
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:0000408) Progressive sensorineural hearing impairment 28 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mirghomizadeh et al. (2002) reported a 5-generation German family segregating nonsyndromic autosomal dominant hearing impairment. Affected individuals showed a progressive sensorineural hearing impairment, beginning in the first to the second decade and leading to severe to profound deafness ...
Molecular genetics OMIM MYH14 was considered a strong candidate gene for hearing loss because it was located within the candidate region of the DFNA4 locus defined by Chen et al. (1995) and Mirghomizadeh et al. (2002). Donaudy et al. (2004) performed ...