/Joubert syndrome 10

Joubert syndrome 10

Rare Disease

MONDO:0010431

Also Known As

JBTS10Joubert syndrome 10Joubert syndrome 10, X-linked recessiveJoubert syndrome caused by mutation in OFD1Joubert syndrome type 10OFD1 Joubert syndrome

Definition

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

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Associated Genes

OFD1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:300804 ↗

GARD

GARD:15265 ↗

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