DEAFNESS, AUTOSOMAL DOMINANT 44

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA44
Number of Symptoms 2
OrphanetNr:
OMIM Id: 607453
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 17503326 IBIS 524 / 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 Modamio-Hoybjor et al. (2003) reported a Spanish family in which hearing loss was initially moderate, mainly affecting low-mid frequencies; it later progressed, involving all frequencies, to a profound hearing loss in the sixth decade. The onset of hearing ...
Molecular genetics OMIM Modamio-Hoybjor et al. (2007) identified the CCDC50 gene within the critical linkage area and considered it a candidate gene for DFNA44 hearing loss, given that it is expressed in cochlea. Sequence analysis of all exons and flanking intronic ...