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Waardenburg syndrome type 2 with ocular albinism

Traduction de «Waardenburg syndrome type 2 with ocular albinism » (Anglais → Français) :

Waardenburg syndrome type 2 with ocular albinism

albinisme oculaire avec surdité neurosensorielle congénitale


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


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




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Date index: 2023-04-18
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