DEAFNESS, AUTOSOMAL RECESSIVE 77

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB77
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613079
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:0000365) Hearing impairment 539 / 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 Grillet et al. (2009) studied a 5-generation consanguineous Iranian family segregating autosomal recessive nonsyndromic hearing loss. Affected members had preserved low-frequency hearing and a trend toward mild to moderate mid-frequency (500 to 2,000 Hz) and high-frequency (greater than ...
Molecular genetics OMIM In a 5-generation consanguineous Iranian family with nonsyndromic hearing loss mapping to chromosome 18q12-q21, Grillet et al. (2009) sequenced the LOXHD1 gene and identified a homozygous mutation (R670X; 613072.0001) in all affected family members tested. Unaffected family member ...