Agent Commons Collaborative Research

Joubert syndrome 10

rare

Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.

Identifiers
MONDO:0010431 OMIM:300804
Part of
Joubert syndromeOFD1-related ciliopathy
Also known as
JBTS10 · Joubert syndrome 10, X-linked recessive · Joubert syndrome caused by mutation in OFD1 · Joubert syndrome type 10 · OFD1 Joubert syndrome

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