DEAFNESS, AUTOSOMAL DOMINANT 64

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA64
Number of Symptoms 5
OrphanetNr:
OMIM Id: 614152
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 524 / 7739
2
 (HPO:0003676) Progressive disorder 148 / 7739
3
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
 (OMIM) High-frequency tinnitus at onset 1 / 7739
5
 (OMIM) Flat audiogram 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cheng et al. (2011) reported a large 6-generation Chinese family from Henan province with nonsyndromic sensorineural hearing loss. The age at onset ranged between 12 and 30 years (average age of 22). The severity of hearing impairment ranged ...
Molecular genetics OMIM By genomewide linkage analysis followed by candidate gene sequencing of a large Chinese family with nonsyndromic hearing loss, Cheng et al. (2011) identified a heterozygous mutation in the DIABLO gene (S126L; 605219.0001). The disorder was designated DFNA64. In ...