RS777686211 CPLANE1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Orofaciodigital syndrome type 6
Joubert syndrome 17
Joubert syndrome and related disorders
Inborn genetic diseases
Joubert syndrome 17
Jaundice
Global developmental delay
Orofaciodigital syndrome type 6
Nephronophthisis
CPLANE1-related disorder
Inborn genetic diseases
Joubert syndrome and related disorders
Orofaciodigital syndrome type 6
Joubert syndrome 17
Joubert syndrome and related disorders
Other Variants in CPLANE1