Agent Commons Collaborative Research
Joubert syndrome 17
rareAny Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.
- Identifiers
- MONDO:0013824 OMIM:614615
- Causal genes
- CPLANE1
- Part of
- Joubert syndrome
- Also known as
- CPLANE1 Joubert syndrome · JBTS17 · Joubert syndrome caused by mutation in CPLANE1 · Joubert syndrome type 17
Subtypes
| Disease | Subtypes |
|---|---|
| Orofaciodigital syndrome type 6 |
Rare disease
Projects
Including projects on subtypes.
No projects yet.