DEAFNESS, AUTOSOMAL RECESSIVE 76

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB76
Number of Symptoms 3
OrphanetNr:
OMIM Id: 615540
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:0000408) Progressive sensorineural hearing impairment 28 / 7739
2
 (OMIM) Hearing loss, progressive sensorineural, affecting high frequencies 1 / 7739
3
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Horn et al. (2013) reported 6 patients from 2 unrelated consanguineous Iraqi Jewish families with autosomal recessive deafness. Affected individuals had onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss ...
Molecular genetics OMIM In 6 patients from 2 unrelated consanguineous Iraqi Jewish families with autosomal recessive deafness, Horn et al. (2013) identified a homozygous truncating mutation in the SYNE4 gene (c.228_229delAT; 615535.0001). The mutation was found by homozygosity mapping followed by ...