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GENATLAS PHENOTYPE
last update : 14-04-2010
Symbol RDSE
Location 4q32.1
Name retinal dystrophy, severe, early-onset
Other name(s) Leber congenital amaurosis 14
Corresponding gene LRAT
Other symbol(s) LCA14
Main clinical features severe, early-onset disease, night blindness, poor vision and reduced visual field
Genetic determination autosomal recessive
Related entries also cause juvenile retinitis pigmentosa and a form of early-onset severe retinal dystrophy
Function/system disorder eye
Type disease
Gene product
Name lecithin retinol acyltransferase
Remark(s)