FACIAL PARESIS, HEREDITARY CONGENITAL, 2

General Information (adopted from Orphanet):

Synonyms, Signs: MBS3, FORMERLY
MOBIUS SYNDROME 3, FORMERLY
MOEBIUS SYNDROME 3, FORMERLY
HCFP2
Number of Symptoms 2
OrphanetNr:
OMIM Id: 604185
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010628) Facial palsy 146 / 7739
2
(OMIM) A subset of patients have hearing loss 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fortanier and Speijer (1935) reported a family with hereditary facial weakness. Nicolai et al. (1986) reported further on this family, which had 9 affected members spanning 4 generations. Affected members had unilateral or bilateral facial weakness. Weakness of ...