Joubert syndrome 18 (JBTS18) is characterised by variable clinical features including intellectual disability, abnormal eye moverments, oral anomalies, vermis agenesis, and molar tooth sign on MRI. JBTS18 is associated with mutations in TCTN3 gene.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
10q24.1
Joubert syndrome 18 (JBTS18) is characterised by variable clinical features including intellectual disability, abnormal eye moverments, oral anomalies, vermis agenesis, and molar tooth sign on MRI. JBTS18 is associated with mutations in TCTN3 gene.