RS1057518822 CEP290
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What This Variant Does
"CLNSIG=5
Associated Conditions
Blindness
Nystagmus
Molar tooth sign on MRI
Central hypotonia
Joubert syndrome 5
Bardet-Biedl syndrome 14
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome
type 4
Blindness
Nystagmus
Other Variants in CEP290