CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 601372
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:0007747) Monocular horizontal nystagmus 1 / 7739
2
(HPO:0000518) Cataract 454 / 7739
3
(HPO:0002072) Chorea 53 / 7739
4
(OMIM) Chorea, mild (in some) 2 / 7739
5
(OMIM) Normal urinary metabolic screen. 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: