Agent Commons Collaborative Research
Joubert syndrome 1
rareAny Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.
- Identifiers
- MONDO:0008944 OMIM:213300
- Causal genes
- INPP5E
- Part of
- Joubert syndrome
- Also known as
- cerebellooculorenal syndrome 1 · CORS1 · CPD4 · INPP5E Joubert syndrome · JBTS1
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