Primary dystonia, DYT2 type
General Information (adopted from Orphanet):
Synonyms, Signs: |
DYT2 |
Number of Symptoms | 8 |
OrphanetNr: | 99657 |
OMIM Id: |
224500
612406 |
ICD-10: |
G24.1 |
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Focal, segmental or multifocal dystonia
-Rare neurologic disease |
Symptom Information:
|
(HPO:0000473) | Torticollis | 42 / 7739 | ||||
|
(HPO:0000643) | Blepharospasm | 20 / 7739 | ||||
|
(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
|
(HPO:0001304) | Torsion dystonia | 13 / 7739 | ||||
|
(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
|
(HPO:0001337) | Tremor | 200 / 7739 | ||||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
(HPO:0003621) | Juvenile onset | 105 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|