Belgian Genetic Tests database
Congenital hereditary facial paralysis-variable hearing loss syndrome
| Name: |
Congenital hereditary facial paralysis-variable hearing loss syndrome
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| 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.
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| ORPHAcode: |
306530
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| Synonyms: |
Congenital hereditary facial palsy with variable deafness
Congenital hereditary facial palsy with variable hearing loss
Congenital hereditary facial paralysis with variable deafness
Congenital hereditary facial paralysis-variable deafness syndrome
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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