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congenital hereditary facial paralysis-variable hearing loss syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.
Mondo Term and Equivalent IDs
MONDO:0017627:  congenital hereditary facial paralysis-variable hearing loss syndrome
Orphanet:306530: 
SCTID:722389002: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found