Additional Disease Briefs


Leber congenital amaurosis 12

Also known as: LCA12, Leber congenital amaurosis 12, Leber congenital amaurosis caused by mutation in RD3, Leber congenital amaurosis type 12, RD3 Leber congenital amaurosis, amaurosis congenita of Leber, type 12


Leber congenital amaurosis 13

Also known as: LCA13, Leber congenital amaurosis 13, Leber congenital amaurosis caused by mutation in RDH12, Leber congenital amaurosis type 13, RDH12 Leber congenital amaurosis, retinitis pigmentosa 53


Leber congenital amaurosis 14

Also known as: LCA14, LRAT Leber congenital amaurosis, Leber congenital amaurosis 14, Leber congenital amaurosis caused by mutation in LRAT, Leber congenital amaurosis type 14, retinal dystrophy, early-onset Severe, LRAT-related, retinal dystrophy, early-onset severe, retinitis pigmentosa, juvenile, retinitis pigmentosa, juvenile, LRAT-related


Leber congenital amaurosis 15

Also known as: LCA15, Leber congenital amaurosis 15, Leber congenital amaurosis caused by mutation in TULP1, Leber congenital amaurosis type 15, TULP1 Leber congenital amaurosis, retinitis pigmentosa, juvenile, Tulp1-related


Leber congenital amaurosis 16

Also known as: KCNJ13 Leber congenital amaurosis, LCA16, Leber congenital amaurosis 16, Leber congenital amaurosis caused by mutation in KCNJ13, Leber congenital amaurosis type 16


Leber congenital amaurosis 17

Also known as: GDF6 Leber congenital amaurosis, LCA17, Leber congenital amaurosis 17, Leber congenital amaurosis caused by mutation in GDF6, Leber congenital amaurosis type 17



Leber congenital amaurosis 2

Also known as: LCA2, Leber congenital amaurosis 2, Leber congenital amaurosis caused by mutation in RPE65, Leber congenital amaurosis type 2, RPE65 Leber congenital amaurosis, amaurosis congenita of Leber 2, amaurosis congenita of Leber II, amaurosis congenita of Leber, type 2


Leber congenital amaurosis 3

Also known as: LCA3, Leber congenital amaurosis 3, Leber congenital amaurosis caused by mutation in SPATA7, Leber congenital amaurosis type 3, SPATA7 Leber congenital amaurosis, amaurosis congenita of Leber, type 3, retinitis pigmentosa, juvenile, Spata7-related, retinitis pigmentosa, juvenile, autosomal recessive


Leber congenital amaurosis 4

Also known as: AIPL1 Leber congenital amaurosis, LCA4, Leber congenital amaurosis 4, Leber congenital amaurosis caused by mutation in AIPL1, Leber congenital amaurosis type 4, amaurosis congenita of Leber, type 4, cone-rod dystrophy, cone-rod dystrophy, Aipl1-related, retinitis pigmentosa, juvenile, retinitis pigmentosa, juvenile, Aipl1-related