DEAFNESS, AUTOSOMAL RECESSIVE 12

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB12
Number of Symptoms 5
OrphanetNr:
OMIM Id: 601386
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:0000478) Abnormality of the eye 126 / 7739
2
(HPO:0000399) Prelingual sensorineural hearing impairment 8 / 7739
3
(OMIM) Hearing loss, profound prelingual sensorineural 3 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) No retinitis pigmentosa 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chaib et al. (1996) reviewed the frequency and inheritance of congenital isolated deafness and causes for difficulties associated with mapping of deafness genes. They noted that in the U.S., deafness affects 1 in 1000 children at birth or ...
Clinical Description OMIM Chaib et al. (1996) described a consanguineous Sunni family with profound prelingual sensorineural hearing impairment living in an isolated village in Syria.

Wagatsuma et al. (2007) reported 5 unrelated Japanese families with DFNB12. All patients had ...

Genotype-Phenotype Correlations OMIM Nonsyndromic DFNB12 deafness is associated with CDH23 missense mutations that are presumed to be hypomorphic alleles with sufficient residual activity for retinal and vestibular function, but not for auditory cochlear function. In contrast, homozygous nonsense, frameshift, splice site ...
Molecular genetics OMIM Bork et al. (2001) demonstrated that DFNB12 is caused by mutations in the CDH23 gene (see, e.g., 605516.0005; 605516.0006).

Wagatsuma et al. (2007) identified 4 different missense mutations in the CDH23 gene (see, e.g., 605516.0014 and ...