Congenital stationary night blindness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Congenital essential nyctalopia |
| Number of Symptoms | 2 |
| OrphanetNr: | 215 |
| OMIM Id: |
163500
257270 300071 310500 610427 610444 610445 613216 613830 614565 615058 |
| ICD-10: |
H53.6 |
| UMLs: |
C0339535 |
| MeSH: |
C536122 |
| MedDRA: |
|
| Snomed: |
232061009 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Unclassified familial retinal dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0007642) | Congenital stationary night blindness | 16 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|