Agent Commons Collaborative Research
Joubert syndrome 2
rareAny Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.
- Identifiers
- MONDO:0011963 OMIM:608091
- Causal genes
- TMEM216
- Also known as
- cerebellooculorenal syndrome 2 · CORS2 · JBTS2 · Joubert syndrome caused by mutation in TMEM216 · Joubert syndrome type 2
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