Cytoscape Web
Click node...

Benign essential blepharospasm
1 OMIM reference -
1 associated gene
4 connected diseases
12 signs/symptoms
Disease Type of connection
Autosomal dominant cervical dystonia
Childhood absence epilepsy
Dravet syndrome
Generalized epilepsy with febrile seizures-plus context
Synonym(s):
- Primary blepharospasm
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DRD5 P21918126453
Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Anomalies of eyes and vision
- Dystonia / torticollis / writer's cramp / blepharospasms
- Movement disorder
- Muscle anomalies

Frequent
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Photophobia
- Xerophthalmia / dry eyes

Occasional
- Autosomal dominant inheritance
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Tremor
- Visual loss / blindness / amblyopia