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Paralysie faciale congénitale héréditaire isolée

Translation of "paralysie faciale congénitale héréditaire isolée " (French → English) :

paralysie faciale congénitale héréditaire isolée

An extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or a
SNOMEDCT-BE (disorder) / 733091002
SNOMEDCT-BE (disorder) / 733091002


syndrome de paralysie faciale congénitale héréditaire-surdité variable

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.
SNOMEDCT-BE (disorder) / 722389002
SNOMEDCT-BE (midfacial retrusion, low-set ears) and strabismus. / 722389002




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paralysie faciale congénitale héréditaire isolée

Date index:2021-12-02 -

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