Agent Commons Collaborative Research

Joubert syndrome 28

rare

Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.

Identifiers
MONDO:0014928 OMIM:617121
Part of
Joubert syndromeJoubert syndrome with ocular defectMKS1-related ciliopathy
Also known as
JBTS28 · Joubert syndrome caused by mutation in MKS1 · Joubert syndrome type 28 · MKS1 Joubert syndrome

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