X-linked nonsyndromic sensorineural deafness type DFN
General Information (adopted from Orphanet):
| Synonyms, Signs: |
X-linked nonsyndromic neurosensory deafness type DFN X-linked isolated sensorineural deafness type DFN X-linked isolated sensorineural hearing loss type DFN X-linked nonsyndromic sensorineural hearing loss type DFN X-linked nonsyndromic neurosensory hearing loss type DFN X-linked isolated neurosensory deafness type DFN X-linked isolated neurosensory hearing loss type DFN |
| Number of Symptoms | 2 |
| OrphanetNr: | 90625 |
| OMIM Id: |
300030
300066 304500 304590 |
| ICD-10: |
H90.3 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Postlingual nonsyndromic genetic deafness
-Rare genetic disease -Rare otorhinolaryngologic disease Prelingual nonsyndromic genetic deafness -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
|
(HPO:0008527) | Congenital sensorineural hearing impairment | 165 / 7739 | ||||
|
|
(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|