congenital hereditary facial paralysis-variable hearing loss syndrome
congenital hereditary facial palsy with variable deafness
exact
congenital hereditary facial palsy with variable hearing loss
exact
congenital hereditary facial paralysis with variable deafness
exact
congenital hereditary facial paralysis-variable deafness syndrome
exact
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:0002254
syndromic disease
is_a
MONDO:0023369
disorder of facial skeleton
is_a