DEAFNESS, AUTOSOMAL RECESSIVE 37

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB37
Number of Symptoms 5
OrphanetNr:
OMIM Id: 607821
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:0000510) Rod-cone dystrophy rare [HPO:skoehler] 266 / 7739
2
 (HPO:0007642) Congenital stationary night blindness rare [HPO:skoehler] 16 / 7739
3
 (HPO:0001751) Vestibular dysfunction 1/6 [HPO:probinson] 19 / 7739
4
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ahmed et al. (2003) reported a Pakistani family in which 6 individuals had bilateral, profound, congenital sensorineural hearing loss segregating as an autosomal recessive disorder. Vestibular dysfunction and mild facial dysmorphism also occurred in the family, and one ...
Molecular genetics OMIM Ahmed et al. (2003) screened for mutations in the MYO6 gene in the 3 families with autosomal recessive deafness linked to 6q13 and identified mutations in all 3 (607821.0002-607821.0004).