RS201502401 CC2D2A
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What This Variant Does
"CLNSIG=5
Associated Conditions
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Inborn genetic diseases
COACH syndrome 1
Neurodevelopmental disorder
Joubert syndrome and related disorders
Retinal dystrophy
Ciliopathy
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome
type 6
Joubert syndrome 9
Other Variants in CC2D2A