An extremely rare autosomal recessive disorder with characteristics of bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears) and strabismus.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3331812015
Congenital hereditary facial paralysis with variable hearing loss syndrome
Active
Synonym
false
false
3331813013
Congenital hereditary facial palsy with variable deafness