/Joubert syndrome 22

Joubert syndrome 22

Rare Disease

MONDO:0014297

Also Known As

JBTS22Joubert syndrome 22Joubert syndrome caused by mutation in PDE6DJoubert syndrome type 22PDE6D Joubert syndrome

Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.

Comprehensive, easy-to-understand information about this condition

Checking for content...

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

Joubert syndrome 1

MONDO:0008944

Joubert syndrome 10

MONDO:0010431

Joubert syndrome 2

MONDO:0011963

Joubert syndrome 3

MONDO:0012078

Joubert syndrome with renal defect

MONDO:0012308

Joubert syndrome 5

MONDO:0012432