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facial paresis, hereditary congenital, 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.
Uniprot Description A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus.
Mondo Term and Equivalent IDs
MONDO:0013880:  facial paresis, hereditary congenital, 3
UMLS:C3553625: