RS200063017 CEP290
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Associated Conditions
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome
type 4
Senior-Loken syndrome 6
Retinitis pigmentosa
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
CEP290-related disorder
Retinal dystrophy
CEP290-related ciliopathy
Joubert syndrome 5
Other Variants in CEP290