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congenital hereditary facial paralysis-variable hearing loss syndrome
Disease Summary
Associated Targets (1)
Tbio
1
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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:306530
SCTID:722389002
MONDO:0017627
High level summary of knowledge for a disease, including descriptions and datasource references.