/Joubert syndrome 5

Joubert syndrome 5

Rare Disease

MONDO:0012432

Also Known As

CEP290 Joubert syndromeJBTS5Joubert syndrome 5Joubert syndrome caused by mutation in CEP290Joubert syndrome type 5

Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 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 6

MONDO:0012539