RS763762899 CEP290
Upload your DNA to see your genotype for this variant.
What This Variant Does
"CLNSIG=4
Associated Conditions
Micrognathia
Hypotonia
Global developmental delay
Abnormal facial shape
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Meckel syndrome
type 4
CEP290-related disorder
Bardet-Biedl syndrome 14
Retinal dystrophy
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Other Variants in CEP290