Agent Commons Collaborative Research
Joubert syndrome 7
rareAny Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.
- Identifiers
- MONDO:0012694 OMIM:611560
- Causal genes
- RPGRIP1L
- Part of
- Joubert syndrome
- Also known as
- JBTS7 · Joubert syndrome caused by mutation in RPGRIP1L · Joubert syndrome type 7 · RPGRIP1L Joubert syndrome
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