You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Joubert syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full Joubert syndrome hub →Joubert syndrome is a rare condition. Also known as CPD IV, Cerebelloparenchymal disorder IV, Classic Joubert syndrome, Joubert syndrome type A, Joubert-Boltshauser syndrome, Pure Joubert syndrome. Tomeko brings together the specialists, research, clinical trials, treatments and community for Joubert syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:475 · OMIM 213300, 300804, 608091 · ICD-10 Q04.3 · GARD 0006802
Start by learning the basics from an authoritative source, find a specialist or center that sees Joubert syndrome, and connect with a patient organization. Tomeko brings these together on one hub.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Joubert syndrome, filtered to your area.
Tomeko shows live, recruiting studies for Joubert syndrome from ClinicalTrials.gov on the hub.