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Waardenburg syndrome type 2 with ocular albinism

Translation of "Waardenburg syndrome type 2 with ocular albinism " (English → French) :

Waardenburg syndrome type 2 with ocular albinism

albinisme oculaire avec surdité neurosensorielle congénitale
SNOMEDCT-BE (disorder) / 773575001
SNOMEDCT-BE (disorder) / 773575001


A rare X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date with characteristics of severe visual impairment, translucent pale-blue irides, a reduction in the retinal pigment and moderately

albinisme oculaire avec surdité sensorielle tardive
SNOMEDCT-BE (7 males over 3 generations) to date with characteristics of severe visual impairment, translucent pale-blue irides, a reduction in the retinal pigment and moderately / 722054007
SNOMEDCT-BE (disorder) / 722054007


A rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neurop

syndrome oculo-cérébral d'hypopigmentation type Preus
SNOMEDCT-BE (disorder) / 716174001
SNOMEDCT-BE (disorder) / 716174001




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'Waardenburg syndrome type 2 with ocular albinism'

Date index:2022-06-06 -

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