DEAFNESS, AUTOSOMAL RECESSIVE 21

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB21
Number of Symptoms 2
OrphanetNr:
OMIM Id: 603629
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:0000407) Sensorineural hearing impairment 9949200 IBIS 524 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mustapha et al. (1999) studied a Lebanese family belonging to the Shiite community in which 9 members presented with a prelingual severe to profound sensorineural isolated form of deafness.

In a study of 2 consanguineous families ...

Molecular genetics OMIM By sequence analysis of the TECTA gene in a Lebanese family segregating nonsyndromic deafness mapping to 11q23-q25, Mustapha et al. (1999) identified homozygosity for a donor splice site mutation (602574.0003).

In affected members from 2 consanguineous ...