DEAFNESS, AUTOSOMAL RECESSIVE 5

General Information (adopted from Orphanet):

Synonyms, Signs: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 5
NSRD5
DFNB5
Number of Symptoms 3
OrphanetNr:
OMIM Id: 600792
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
(OMIM) Nonsyndromic neurosensory deafness 2 / 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 Fukushima et al. (1995) described a consanguineous family in which 3 sibs had congenital prelingual severe nonsyndromic deafness.