A rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-s

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syndrome de déficience intellectuelle liée à l'X, dystrophie des ongles, épilepsie

https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]

https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]

prima facie evidence | prima facie proof

http://iate.europa.eu/FindTerm (...) (...) [HTML] [2017-12-31]

commencement de preuve | preuve prima facie | preuve suffisante à première vue

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cardiac facies | Corvisart facies

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facies de Corvisart

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http://iate.europa.eu/FindTerm (...) [HTML] [2017-12-31]

facies change

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changement de faciès

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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.

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syndrome de paralysie faciale congénitale héréditaire-surdité variable

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Belongs to the group of multiple congenital anomalies/mental retardation syndromes with intellectual deficit, distinctive facies (upward slanting palpebral fissures, squint), kyphoscoliosis, diastasis recti, cryptorchidism, and a congenital heart def

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syndrome de McDonough

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D'autres ont cherché : corvisart facies abysmal facies abyssal facies cardiac facies deep water facies deep-sea facies facies change facies homogenization homogenisation of facies homogenization of facies myxedematous facies myxoedematous facies prima facie evidence prima facie proof sulfide-facies iron formation sulphide facies bif sulphide-facies iron formation Myxedematous facies

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'Myxedematous facies' ->

Date index: 2021-10-31