RS375038986 CEP290
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Associated Conditions
Meckel syndrome
type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Microcephaly
Retinal dystrophy
CEP290-related disorder
Inborn genetic diseases
Meckel syndrome
type 4
Other Variants in CEP290