A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable.

Name Development Level Target Family
Name Description
TCRDv4.6.9
UniProt Disease
DisGeNET
ORPHANET