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Joubert syndrome 9
rareAny Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.
- Identifiers
- MONDO:0012849 OMIM:612285
- Causal genes
- CC2D2A
- Also known as
- CC2D2A Joubert syndrome · JBTS9 · Joubert syndrome caused by mutation in CC2D2A · Joubert syndrome type 9
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