Conditions / Syndrome
Joubert syndrome 9
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
Signs and symptoms
- Global developmental delay
- Molar tooth sign on MRI
- Intellectual disability
- Ventriculomegaly
- Nystagmus
- Oculomotor apraxia
- Episodic tachypnea
- Apnea
- Astigmatism
- Cataract
Also known as: JBTS9