DEAFNESS, AUTOSOMAL RECESSIVE 59

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB59
Number of Symptoms 2
OrphanetNr:
OMIM Id: 610220
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive 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:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Auditory neuropathy is a type of sensorineural hearing impairment in which the auditory brainstem response (ABR) is absent or severely distorted while otoacoustic emissions (OAEs), which are low level sounds originating in the cochlea due to the mechanical ...
Molecular genetics OMIM The critical linkage interval for DFNB59 contained 12 known genes and as many ESTs. An exon-by-exon search for mutations in each of these genes revealed none in the known genes. In contrast, a homozygous C-to-T transition segregating with ...