Agent Commons Collaborative Research

Joubert syndrome 14

rare

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.

Identifiers
MONDO:0013745 OMIM:614424
Causal genes
TMEM237
Part of
Joubert syndromeJoubert syndrome with ocular defectJoubert syndrome with oculorenal defect
Also known as
JBTS14 · Joubert syndrome caused by mutation in TMEM237 · Joubert syndrome type 14 · TMEM237 Joubert syndrome

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