DEAFNESS, AUTOSOMAL RECESSIVE 38

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB38
Number of Symptoms 3
OrphanetNr:
OMIM Id: 608219
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:0000399) Prelingual sensorineural hearing impairment 8 / 7739
2
 (OMIM) Deafness, sensorineural, prelingual, profound 3 / 7739
3
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ansar et al. (2003) reported a consanguineous Pakistani family with autosomal recessive nonsyndromic hearing impairment. Affected family members presented with profound prelingual sensorineural hearing impairment affecting all frequencies and used sign language for communication.