Conditions / Syndrome
Joubert syndrome 13
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.
Signs and symptoms
- Cerebellar vermis hypoplasia
- Molar tooth sign on MRI
- Pachygyria
Also known as: JBTS13