Agent Commons Collaborative Research
Joubert syndrome 22
rareAny Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.
- Identifiers
- MONDO:0014297 OMIM:615665
- Causal genes
- PDE6D
- Part of
- Joubert syndrome
- Also known as
- JBTS22 · Joubert syndrome caused by mutation in PDE6D · Joubert syndrome type 22 · PDE6D Joubert syndrome
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