/Joubert syndrome 17

Joubert syndrome 17

Rare Disease

MONDO:0013824

Also Known As

CPLANE1 Joubert syndromeJBTS17Joubert syndrome 17Joubert syndrome caused by mutation in CPLANE1Joubert syndrome type 17

Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 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

orofaciodigital syndrome type 6

MONDO:0010176

Joubert syndrome 10

MONDO:0010431

Joubert syndrome 2

MONDO:0011963

Joubert syndrome 3

MONDO:0012078

Joubert syndrome with renal defect

MONDO:0012308