DEAFNESS, AUTOSOMAL RECESSIVE 18B

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB18B
Number of Symptoms 5
OrphanetNr:
OMIM Id: 614945
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:0000365) Hearing impairment 539 / 7739
2
(OMIM) Deafness, nonprogressive, moderate 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Flat or shallow U-shaped audiogram 1 / 7739
5
(OMIM) Vestibular hyporeflexia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schraders et al. (2012) studied 4 sibs with nonsyndromic deafness, who all had flat to shallow U-shaped audiograms. Of the 4 affected sibs, 3 had delayed speech development, suggesting a prelingual onset of the hearing impairment, and 2 ...
Molecular genetics OMIM In 4 sibs from a Dutch family segregating autosomal recessive nonsyndromic deafness mapping to chromosome 11p15, Schraders et al. (2012) analyzed the USH1C gene (605242) but found no mutations. However, homozygosity for a 1-bp deletion in the candidate ...