DEAFNESS, AUTOSOMAL RECESSIVE 62
General Information (adopted from Orphanet):
Synonyms, Signs:
DFNB62
Number of Symptoms
3
OrphanetNr:
OMIM Id:
610143
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
Symptom
Abundance
Frequency
Pubmed
Source
DB Freq
1
(HPO:0000399)
Prelingual sensorineural hearing impairment
8 / 7739
2
(HPO:0000007)
Autosomal recessive inheritance
2538 / 7739
3
(OMIM)
Deafness, prelingual, profound (affects all frequencies)
3 / 7739
ClinVar (via SNiPA)
Gene symbol
Variation
Clinical significance
Reference
Additional Information:
Clinical Description
OMIM
Ali et al. (2006) reported a consanguineous Pakistani family in which 5 members had nonsyndromic prelingual profound hearing impairment involving all frequencies.