Conditions / Syndrome
Joubert syndrome 31
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23.
Signs and symptoms
- Global developmental delay
- Hypotonia
- Molar tooth sign on MRI
- Truncal ataxia
- Strabismus
- Hypoplasia of the corpus callosum
- Nystagmus
- Oculomotor apraxia
- Ventriculomegaly
- Duane anomaly