Conditions / Syndrome
Joubert syndrome 27
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.
Signs and symptoms
- Global developmental delay
- Hypotonia
- Ataxia
- Oculomotor apraxia
- Molar tooth sign on MRI
- Intellectual disability
- Axial hypotonia
- Dilatation of the renal pelvis
- Gait ataxia
- Esodeviation
Also known as: JBTS27