Conditions / Syndrome
Joubert syndrome 18
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24.
Signs and symptoms
- Postaxial polydactyly
- Occipital encephalocele
- Intrahepatic biliary atresia
- Renal cyst
- Trident pelvis
- Molar tooth sign on MRI
- Intellectual disability
- Joint hypermobility
- Intrauterine growth retardation
- Retrognathia
Also known as: JBTS18