Conditions / Syndrome
Joubert syndrome 2
info · Syndrome
A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2.
Signs and symptoms
- Hypotonia
- Molar tooth sign on MRI
- Intellectual disability
- Global developmental delay
- Rotary nystagmus
- Hypoplasia of the brainstem
- Ataxia
- Abnormal corpus callosum morphology
- Encephalocele
- Elongated superior cerebellar peduncle
Also known as: CORS2; JBTS2; cerebellooculorenal syndrome 2