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Leber Congenital Amaurosis Type 1

Prevalence: 1/100000

ophthalmologic

Official·OMIM:204000 Official·ORPHA65

Congenital blindness or severe visual impairment due to GUCY2D gene mutations.

Associated Genes

GUCY2DGuanylate Cyclase 2D

Chromosome 17Autosomal Recessive