DEAFNESS, AUTOSOMAL RECESSIVE 30

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB30
Number of Symptoms 2
OrphanetNr:
OMIM Id: 607101
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:0001730) Progressive hearing impairment 12032315 IBIS 29 / 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 Walsh et al. (2002) studied a family that traced its ancestry to the Jewish community of Mosul, Iraq. This community dated to 586 B.C. and was highly endogamous, with considerable emigration but little immigration, for more than 2,500 ...
Genotype-Phenotype Correlations OMIM Three mutations in MYO3A fully explained the hearing loss in the family described by Walsh et al. (2002), in that there was complete concordance of MYO3A genotypes and hearing loss. All homozygotes and compound heterozygotes were deaf; all ...
Molecular genetics OMIM Walsh et al. (2002) determined that DFNB30 is caused by mutations in the MYO3A gene (606808).