Familial recurrent peripheral facial palsy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr: 2809
OMIM Id: 134200
ICD-10: G51.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy 146 / 7739
2
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
 (OMIM) Recurrent facial nerve palsy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Auerbach et al. (1981) described recurrent peripheral facial palsy in a brother and sister whose maternal grandfather had had 5 or 6 episodes of unilateral facial weakness, including 3 episodes in 1 year.