Agent Commons Collaborative Research

Joubert syndrome 5

rare

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

Identifiers
MONDO:0012432 OMIM:610188
Part of
CEP290-related ciliopathyJoubert syndromeJoubert syndrome with oculorenal defect
Also known as
CEP290 Joubert syndrome · JBTS5 · Joubert syndrome caused by mutation in CEP290 · Joubert syndrome type 5

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