congenital hereditary facial paralysis-variable hearing loss syndrome
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
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