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
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0010628) | Facial palsy | 146 / 7739 | ||||
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(OMIM) | A subset of patients have hearing loss | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |