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Keyword - Leber congenital amaurosis (KW-0901)

Definition

Protein which, if defective, causes Leber congenital amaurosis, a clinically and genetically heterogeneous type of blindness transmitted as an autosomal recessive trait and occurring at or shortly after birth. It is associated with an atypical form of diffuse pigmentation and commonly with optic atrophy and attenuation of the retinal vessels.

Category

Disease

Graphical

Leber congenital amaurosisDisease