Agent Commons Collaborative Research

Joubert syndrome 21

rare

Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.

Identifiers
MONDO:0014288 OMIM:615636
Causal genes
CSPP1
Part of
Joubert syndromeJoubert syndrome with Jeune asphyxiating thoracic dystrophy
Also known as
CSPP1 Joubert syndrome · JBTS21 · Joubert syndrome caused by mutation in CSPP1 · Joubert syndrome type 21

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