Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
Joubert syndrome 1
MONDO:0008944
Joubert syndrome 10
MONDO:0010431
Joubert syndrome 2
MONDO:0011963
Joubert syndrome 3
MONDO:0012078
Joubert syndrome with renal defect
MONDO:0012308
Joubert syndrome 5
MONDO:0012432