Spasmus nutans
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 3 |
| OrphanetNr: | 279882 |
| OMIM Id: |
|
| ICD-10: |
F98.4 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare acquired eye disease
-Rare eye disease |
Symptom Information:
|
|
(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 555 / 7739 | |||
|
|
(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
|
|
(HPO:0001332) | Dystonia | Very frequent [Orphanet] | 197 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|