DEAFNESS, AUTOSOMAL RECESSIVE 23

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB23
Number of Symptoms 7
OrphanetNr:
OMIM Id: 609533
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
2
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
3
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
4
(OMIM) Normal vision 3 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Severe to profound deafness 2 / 7739
7
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ahmed et al. (2003) reported 3 families with isolated deafness. Two of the families had no history of nyctalopia, and the funduscopy and electroretinograms were normal in 2 older affected individuals from each family (age range, 13-44 years). ...
Molecular genetics OMIM In affected members of 2 unrelated families with isolated deafness, Ahmed et al. (2003) identified 2 different homozygous mutations in the PCDH15 gene (605514.0006 and 605514.0007, respectively).

In affected members of a consanguineous family from Newfoundland ...