DEAFNESS, AUTOSOMAL RECESSIVE 2

General Information (adopted from Orphanet):

Synonyms, Signs: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
NSRD2
DFNB2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 600060
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002321) Vertigo 58 / 7739
2
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
3
(HPO:0001751) Vestibular dysfunction 19 / 7739
4
(HPO:0003577) Congenital onset 133 / 7739
5
(OMIM) Hearing loss, sensorineural, prelingual 1 / 7739
6
(OMIM) Hearing loss affects all frequencies 2 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Guilford et al. (1994) reported a consanguineous family from southern Tunisia in which 22 individuals had autosomal recessive nonsyndromic sensorineural deafness. All had profound deafness, and 4 also had vertigo. The age of onset of deafness was variable ...
Molecular genetics OMIM In affected members of the Tunisian family reported by Guilford et al. (1994), Weil et al. (1997) identified a homozygous mutation in the MYO7A gene (276903.0010).

In affected members of 2 Chinese families with DFNB2, Liu ...