RS137852834 CEP290
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What This Variant Does
"[OMIM:?]
Associated Conditions
Leber congenital amaurosis 10
Joubert syndrome 5
Blindness
Central hypotonia
Molar tooth sign on MRI
Nystagmus
Bardet-Biedl syndrome 14
Meckel syndrome
type 4
Senior-Loken syndrome 6
Retinal dystrophy
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Other Variants in CEP290