DEAFNESS, Y-LINKED 1

General Information (adopted from Orphanet):

Synonyms, Signs: DFNY1
Number of Symptoms 4
OrphanetNr:
OMIM Id: 400043
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000360) Tinnitus rare [HPO:skoehler] 29 / 7739
2
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
3
(OMIM) Hearing loss, sensorineural, postlingual progressive, moderate to severe 1 / 7739
4
(HPO:0001450) Y-linked inheritance 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wang et al. (2004) reported a 7-generation Chinese family in which multiple male members had nonsyndromic hearing impairment. The family originated from Jiangxi Province in southeastern China. Age at onset ranged from 7 to 27 years, resulting in ...
Molecular genetics OMIM Wang et al. (2013) restudied the Chinese pedigree previously studied by Wang et al. (2008) and originally reported by Wang et al. (2004), analyzing in detail the Y chromosome of affected individuals and comparing it to that of ...