DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 612097
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0009900) Unilateral deafness 2 / 7739
2
(HPO:0000969) Edema 117 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Deafness, unilateral, childhood onset 1 / 7739
5
(OMIM) Endolymphatic hydrops, delayed onset 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dodson et al. (2007) reported 2 unrelated cases of possible familial unilateral deafness with delayed endolymphatic hydrops. One patient was a 38-year-old man with severe to profound hearing loss in the left ear since childhood, who at 36 ...