Paroxysmal non-kinesigenic dyskinesia
General Information (adopted from Orphanet):
Synonyms, Signs: |
|
Number of Symptoms | 10 |
OrphanetNr: | 98810 |
OMIM Id: |
118800
611147 |
ICD-10: |
G24.8 |
UMLs: |
C1869117 |
MeSH: |
C537181 |
MedDRA: |
10065657 10065658 |
Snomed: |
49949003 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
Age of onset: |
Infancy Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Paroxysmal dyskinesia
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
(HPO:0000473) | Torticollis | 42 / 7739 | ||||
|
(HPO:0000273) | Facial grimacing | 6 / 7739 | ||||
|
(HPO:0002268) | Paroxysmal dystonia | 11 / 7739 | ||||
|
(HPO:0007098) | Paroxysmal choreoathetosis | 6 / 7739 | ||||
|
(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
|
(HPO:0002411) | Myokymia | 10 / 7739 | ||||
|
(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
|
(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
(HPO:0011463) | Childhood onset | 65 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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