EPISODIC ATAXIA, TYPE 8

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 616055
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
2
 (HPO:0002411) Myokymia rare [HPO:skoehler] 10 / 7739
3
 (HPO:0002131) Episodic ataxia 16 / 7739
4
 (HPO:0002080) Intention tremor rare [HPO:skoehler] 44 / 7739
5
 (HPO:0001350) Slurred speech 16 / 7739
6
 (HPO:0001324) Muscle weakness 859 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: