RS548558619 CEP290
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Associated Conditions
Meckel syndrome
type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
CEP290-related disorder
Inborn genetic diseases
Meckel syndrome
type 4
Bardet-Biedl syndrome 14
Other Variants in CEP290