RS376493409 CEP290
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What This Variant Does
"CLNSIG=5
Associated Conditions
Joubert syndrome 5
Global developmental delay
Blindness
Occipital encephalocele
Cystic renal dysplasia
Meckel syndrome
type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis
Inborn genetic diseases
Other Variants in CEP290