Benign familial chorea

General Information (adopted from Orphanet):

Synonyms, Signs: Hereditary benign chorea
Number of Symptoms 9
OrphanetNr: 1429
OMIM Id: 118700
215450
ICD-10: G25.5
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: Huntington disease-like syndrome
 -Rare genetic disease
 -Rare neurologic disease
Neurodegenerative disease with chorea
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
2
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
3
 (HPO:0001270) Motor delay 322 / 7739
4
 (HPO:0000739) Anxiety 67 / 7739
5
 (HPO:0002072) Chorea 53 / 7739
6
 (HPO:0001260) Dysarthria Occasional [HPO:probinson] 329 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (HPO:0003812) Phenotypic variability 129 / 7739
9
 (HPO:0003621) Juvenile onset 105 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: