Conditions / Syndrome
Joubert syndrome 5
info · Syndrome
A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.
Signs and symptoms
- Hypotonia
- Ataxia
- Oculomotor apraxia
- Molar tooth sign on MRI
- Aplasia/Hypoplasia of the cerebellar vermis
- Global developmental delay
- Stage 5 chronic kidney disease
- Intellectual disability
- Congenital blindness
- Nystagmus
Also known as: JBTS5